Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
MEGF6	1953	broad.mit.edu	37	1	3519044	3519044	+	Silent	SNP	C	C	A			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.chr1:3519044C>A	ENST00000356575.4	-	2	478	c.252G>T	c.(250-252)gtG>gtT	p.V84V		NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	84	EMI.					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)		GCTCATGACCCACGCACCACG	0.697													5	42	---	---	---	---
PRAMEF12	390999	broad.mit.edu	37	1	12835281	12835281	+	Missense_Mutation	SNP	C	C	A			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.chr1:12835281C>A	ENST00000357726.4	+	1	298	c.271C>A	c.(271-273)Cag>Aag	p.Q91K		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12	91										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)		ACTGCTTGCCCAGAAGGTTCG	0.597													5	105	---	---	---	---
ACOT11	26027	broad.mit.edu	37	1	55069594	55069594	+	Missense_Mutation	SNP	G	G	T			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.chr1:55069594G>T	ENST00000371316.3	+	11	1218	c.1136G>T	c.(1135-1137)tGg>tTg	p.W379L	ACOT11_ENST00000343744.2_Missense_Mutation_p.W379L|ACOT11_ENST00000481208.1_3'UTR	NM_015547.3	NP_056362.1	Q8WXI4	ACO11_HUMAN	acyl-CoA thioesterase 11	379	START.				fatty acid metabolic process|intracellular signal transduction|response to cold		acyl-CoA thioesterase activity|carboxylesterase activity			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(3)|lung(5)|ovary(1)	17						TCCGTCCCCTGGGACCCTAGC	0.582													6	90	---	---	---	---
C1orf177	163747	broad.mit.edu	37	1	55280671	55280671	+	Missense_Mutation	SNP	G	G	T			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.chr1:55280671G>T	ENST00000358193.3	+	8	1063	c.1009G>T	c.(1009-1011)Ggg>Tgg	p.G337W	C1orf177_ENST00000371273.3_Missense_Mutation_p.G337W	NM_152607.2	NP_689820	Q3ZCV2	CA177_HUMAN	chromosome 1 open reading frame 177	337										breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(6)|prostate(2)	17						GACCTCCAAGGGGTCAGGTGC	0.552													7	186	---	---	---	---
SYDE2	84144	broad.mit.edu	37	1	85666010	85666010	+	Missense_Mutation	SNP	G	G	T			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.chr1:85666010G>T	ENST00000341460.5	-	1	719	c.670C>A	c.(670-672)Cca>Aca	p.P224T		NM_032184.1	NP_115560.1	Q5VT97	SYDE2_HUMAN	synapse defective 1, Rho GTPase, homolog 2 (C. elegans)	224					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)		CCCACATTTGGGGAGGCTGCC	0.557													6	133	---	---	---	---
CLCA2	9635	broad.mit.edu	37	1	86900283	86900283	+	Missense_Mutation	SNP	G	G	T			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.chr1:86900283G>T	ENST00000370565.4	+	6	989	c.827G>T	c.(826-828)tGg>tTg	p.W276L		NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2	276					cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity			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)		AGAAGTGCATGGGATGTAATC	0.478													5	138	---	---	---	---
HFM1	164045	broad.mit.edu	37	1	91851252	91851252	+	Missense_Mutation	SNP	T	T	C			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	---	---	---	---
GLMN	11146	broad.mit.edu	37	1	92729219	92729219	+	Missense_Mutation	SNP	G	G	T			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.chr1:92729219G>T	ENST00000370360.3	-	15	1451	c.1370C>A	c.(1369-1371)cCa>cAa	p.P457Q	GLMN_ENST00000534881.1_Missense_Mutation_p.P443Q	NM_053274.2	NP_444504.1	Q92990	GLMN_HUMAN	glomulin, FKBP associated protein	457					muscle cell differentiation|negative regulation of T cell proliferation|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of phosphorylation|regulation of gene expression, epigenetic|vasculogenesis	intracellular	hepatocyte growth factor receptor binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	17		all_lung(203;0.00827)|Lung NSC(277;0.0295)		all cancers(265;0.00702)|GBM - Glioblastoma multiforme(16;0.0381)|Epithelial(280;0.0989)		TGCACCCTCTGGGAGAAAAAG	0.373									Multiple Glomus Tumors (of the Skin), Familial				5	148	---	---	---	---
FLG2	388698	broad.mit.edu	37	1	152328017	152328017	+	Missense_Mutation	SNP	C	C	A			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.chr1:152328017C>A	ENST00000388718.5	-	3	2317	c.2245G>T	c.(2245-2247)Ggg>Tgg	p.G749W	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	749	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)			GAGCCAGACCCATGTTGTCCA	0.507													8	413	---	---	---	---
INTS3	65123	broad.mit.edu	37	1	153744959	153744959	+	Missense_Mutation	SNP	C	C	A			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.chr1:153744959C>A	ENST00000456435.1	+	27	3432	c.2246C>A	c.(2245-2247)cCt>cAt	p.P749H	INTS3_ENST00000476843.1_Intron|INTS3_ENST00000318967.2_Intron|INTS3_ENST00000435409.2_Intron|INTS3_ENST00000512605.1_Missense_Mutation_p.P749H			Q68E01	INT3_HUMAN	integrator complex subunit 3	0					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)			CGGTGCTGCCCTGGCCCAGAC	0.597													4	29	---	---	---	---
COPA	1314	broad.mit.edu	37	1	160275314	160275314	+	Nonsense_Mutation	SNP	C	C	A			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.chr1:160275314C>A	ENST00000241704.7	-	17	1805	c.1576G>T	c.(1576-1578)Gag>Tag	p.E526*	COPA_ENST00000368069.3_Nonsense_Mutation_p.E535*	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	526					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			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)			CGAATGTTCTCATGAATGTTA	0.448													6	93	---	---	---	---
F13B	2165	broad.mit.edu	37	1	197009754	197009754	+	Missense_Mutation	SNP	C	C	A			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.chr1:197009754C>A	ENST00000367412.1	-	11	1893	c.1850G>T	c.(1849-1851)aGa>aTa	p.R617I	F13B_ENST00000490002.1_5'UTR	NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	617	Sushi 10.				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						AGTATCTCCTCTACAAATAAA	0.308													5	55	---	---	---	---
CD46	4179	broad.mit.edu	37	1	207940420	207940420	+	Missense_Mutation	SNP	T	T	A			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_ENST00000480003.1_Missense_Mutation_p.F246I|CD46_ENST00000367041.1_Missense_Mutation_p.F246I|CD46_ENST00000469535.1_3'UTR|CD46_ENST00000322875.4_Missense_Mutation_p.F246I|CD46_ENST00000361067.1_Missense_Mutation_p.F246I|CD46_ENST00000367042.1_Missense_Mutation_p.F246I|CD46_ENST00000441839.2_Missense_Mutation_p.F246I|CD46_ENST00000322918.5_Missense_Mutation_p.F246I|CD46_ENST00000357714.1_Missense_Mutation_p.F246I|CD46_ENST00000360212.2_Missense_Mutation_p.F246I|CD46_ENST00000367047.1_Missense_Mutation_p.F183I|CD46_ENST00000354848.1_Missense_Mutation_p.F246I	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	---	---	---	---
OBSCN	84033	broad.mit.edu	37	1	228492955	228492955	+	Missense_Mutation	SNP	G	G	T			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.chr1:228492955G>T	ENST00000570156.2	+	54	14472	c.14398G>T	c.(14398-14400)Ggg>Tgg	p.G4800W	OBSCN_ENST00000284548.11_Intron|OBSCN_ENST00000366709.4_Intron|OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000366707.4_Missense_Mutation_p.G1477W	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3843					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)				CCTCAGAGATGGGGACAGATA	0.562													5	132	---	---	---	---
TTC31	64427	broad.mit.edu	37	2	74719548	74719548	+	Silent	SNP	G	G	T			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.chr2:74719548G>T	ENST00000233623.5	+	11	1144	c.1137G>T	c.(1135-1137)ctG>ctT	p.L379L	TTC31_ENST00000410003.1_3'UTR|TTC31_ENST00000442235.2_Intron	NM_022492.4	NP_071937.4	Q49AM3	TTC31_HUMAN	tetratricopeptide repeat domain 31	379							binding			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						TCTTCCGCCTGGGCAAGGCCT	0.617													5	92	---	---	---	---
FABP1	2168	broad.mit.edu	37	2	88425739	88425739	+	Missense_Mutation	SNP	C	C	A			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.chr2:88425739C>A	ENST00000393750.3	-	2	227	c.196G>T	c.(196-198)Ggg>Tgg	p.G66W	FABP1_ENST00000295834.3_Missense_Mutation_p.G66W|FABP1_ENST00000495375.1_5'UTR			P07148	FABPL_HUMAN	fatty acid binding protein 1, liver	66					organ morphogenesis					kidney(1)|large_intestine(1)|lung(2)|prostate(1)|stomach(1)	6						CATTCCTCCCCCACCGTGAAT	0.532													8	244	---	---	---	---
LONRF2	164832	broad.mit.edu	37	2	100916210	100916210	+	Missense_Mutation	SNP	G	G	C			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	---	---	---	---
WDR33	55339	broad.mit.edu	37	2	128474753	128474753	+	Missense_Mutation	SNP	C	C	T			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	---	---	---	---
DNAH7	56171	broad.mit.edu	37	2	196737068	196737068	+	Missense_Mutation	SNP	A	A	C			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	---	---	---	---
SPHKAP	80309	broad.mit.edu	37	2	228882928	228882928	+	Missense_Mutation	SNP	G	G	T			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.chr2:228882928G>T	ENST00000392056.3	-	7	2688	c.2642C>A	c.(2641-2643)cCa>cAa	p.P881Q	SPHKAP_ENST00000344657.5_Missense_Mutation_p.P881Q	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	881						cytoplasm	protein binding	p.P881Q(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)		TTGGGTGTTTGGGTGGATACT	0.522													8	200	---	---	---	---
ANO7	50636	broad.mit.edu	37	2	242147077	242147077	+	Missense_Mutation	SNP	C	C	A			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.chr2:242147077C>A	ENST00000274979.8	+	11	1334	c.1231C>A	c.(1231-1233)Ctg>Atg	p.L411M	ANO7_ENST00000402430.3_Missense_Mutation_p.L410M	NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN	anoctamin 7	411						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						CGCCTGTGCCCTGGCCCAGGT	0.617													5	110	---	---	---	---
SLC6A11	6538	broad.mit.edu	37	3	10976882	10976882	+	Silent	SNP	C	C	A			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.chr3:10976882C>A	ENST00000254488.2	+	13	1809	c.1743C>A	c.(1741-1743)ccC>ccA	p.P581P		NM_014229.1	NP_055044.1	P48066	S6A11_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 11	581					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	p.P581P(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)		GGACACTGCCCGAGGTGAGAC	0.652													5	121	---	---	---	---
OXSR1	9943	broad.mit.edu	37	3	38292947	38292947	+	Missense_Mutation	SNP	A	A	G			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	---	---	---	---
CYB561D2	11068	broad.mit.edu	37	3	50391102	50391102	+	Missense_Mutation	SNP	C	C	A			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.chr3:50391102C>A	ENST00000418577.1	+	3	1172	c.596C>A	c.(595-597)cCt>cAt	p.P199H	CYB561D2_ENST00000232508.5_Missense_Mutation_p.P199H|CYB561D2_ENST00000424512.1_Missense_Mutation_p.P199H|XXcos-LUCA11.5_ENST00000606589.1_Intron|CYB561D2_ENST00000425346.1_Missense_Mutation_p.P199H			O14569	C56D2_HUMAN	cytochrome b561 family, member D2	199	Cytochrome b561.				electron transport chain|transport	integral to membrane	metal ion binding			endometrium(1)|lung(1)|urinary_tract(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		GTATTATGCCCTGTCCTCACC	0.567													5	129	---	---	---	---
SIDT1	54847	broad.mit.edu	37	3	113338551	113338551	+	Missense_Mutation	SNP	G	G	T			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.chr3:113338551G>T	ENST00000264852.4	+	21	2794	c.2068G>T	c.(2068-2070)Ggg>Tgg	p.G690W	SIDT1_ENST00000393830.3_Missense_Mutation_p.G695W|SIDT1_ENST00000463226.1_3'UTR	NM_017699.2	NP_060169.2	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1	690						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						GCTGGTTGTGGGGAATCTGGT	0.383													8	323	---	---	---	---
MYLK	4638	broad.mit.edu	37	3	123333147	123333147	+	Missense_Mutation	SNP	C	C	A			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.chr3:123333147C>A	ENST00000360772.3	-	34	5775	c.5397G>T	c.(5395-5397)agG>agT	p.R1799S	MYLK-AS1_ENST00000470449.1_RNA|MYLK_ENST00000354792.5_Missense_Mutation_p.R650S|MYLK_ENST00000360304.3_Missense_Mutation_p.R1850S|MYLK-AS1_ENST00000463408.1_RNA|MYLK-AS1_ENST00000485162.1_RNA|MYLK_ENST00000418370.2_Missense_Mutation_p.R90S|MYLK_ENST00000359169.1_Missense_Mutation_p.R1799S|MYLK_ENST00000583087.1_Missense_Mutation_p.R90S|MYLK_ENST00000346322.5_Missense_Mutation_p.R1781S|MYLK_ENST00000475616.1_Missense_Mutation_p.R1850S|MYLK_ENST00000578202.1_Missense_Mutation_p.R89S			Q15746	MYLK_HUMAN	myosin light chain kinase	1850					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)		GGCGGGACTCCCTGATTGACT	0.483													6	81	---	---	---	---
SLC12A8	84561	broad.mit.edu	37	3	124896676	124896676	+	Missense_Mutation	SNP	C	C	A			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.chr3:124896676C>A	ENST00000423114.2	-	5	619	c.620G>T	c.(619-621)tGg>tTg	p.W207L	SLC12A8_ENST00000314584.7_5'UTR|SLC12A8_ENST00000469902.1_Missense_Mutation_p.W178L|SLC12A8_ENST00000393469.4_Missense_Mutation_p.W178L			A0AV02	S12A8_HUMAN	solute carrier family 12, member 8	178					potassium ion transport	integral to membrane	symporter activity			endometrium(2)|kidney(2)|lung(12)	16						GCGGATTATCCATTTGACACC	0.557													4	48	---	---	---	---
TF	7018	broad.mit.edu	37	3	133489392	133489392	+	Missense_Mutation	SNP	C	C	A			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.chr3:133489392C>A	ENST00000402696.3	+	14	2148	c.1663C>A	c.(1663-1665)Cag>Aag	p.Q555K	TF_ENST00000264998.3_Missense_Mutation_p.Q428K	NM_001063.3	NP_001054	P02787	TRFE_HUMAN	transferrin	555	Transferrin-like 2.				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)	TGTGAAACACCAGACTGTCCC	0.507													6	192	---	---	---	---
CP	1356	broad.mit.edu	37	3	148896263	148896263	+	Silent	SNP	A	A	G			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	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	---	---	---	---
ST6GAL1	6480	broad.mit.edu	37	3	186790707	186790707	+	Missense_Mutation	SNP	C	C	A			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.chr3:186790707C>A	ENST00000169298.3	+	6	1450	c.776C>A	c.(775-777)cCa>cAa	p.P259Q	ST6GAL1_ENST00000457772.2_Missense_Mutation_p.P28Q|ST6GAL1_ENST00000448044.1_Missense_Mutation_p.P259Q	NM_173216.2	NP_775323.1	P15907	SIAT1_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 1	259					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)		GTATGGGACCCATCTGTATAC	0.443													5	116	---	---	---	---
TNK2	10188	broad.mit.edu	37	3	195594757	195594757	+	Silent	SNP	C	C	A			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.chr3:195594757C>A	ENST00000333602.6	-	12	2984	c.2367G>T	c.(2365-2367)tcG>tcT	p.S789S	TNK2_ENST00000381916.2_Silent_p.S867S|TNK2_ENST00000428187.1_Silent_p.S821S|TNK2_ENST00000392400.1_Silent_p.S789S	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2	789	EBD domain (By similarity).|Pro-rich.			Missing (in Ref. 4; AAH08884).	positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	TGGGTGTCCTCGAGCCTTGAG	0.706													4	46	---	---	---	---
TADA2B	93624	broad.mit.edu	37	4	7056217	7056217	+	Silent	SNP	G	G	T			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.chr4:7056217G>T	ENST00000310074.7	+	2	888	c.699G>T	c.(697-699)ctG>ctT	p.L233L	TADA2B_ENST00000512388.1_Silent_p.L158L|TADA2B_ENST00000515646.1_Silent_p.L141L	NM_152293.2	NP_689506.2	Q86TJ2	TAD2B_HUMAN	transcriptional adaptor 2B	233					regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|zinc ion binding			breast(3)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	18						CAGCCTTCCTGGGGAAGGACA	0.577													5	99	---	---	---	---
SORCS2	57537	broad.mit.edu	37	4	7684513	7684513	+	Missense_Mutation	SNP	A	A	T			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	---	---	---	---
SH3TC1	54436	broad.mit.edu	37	4	8221138	8221138	+	Silent	SNP	C	C	A			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.chr4:8221138C>A	ENST00000539824.1	+	9	1139	c.765C>A	c.(763-765)ctC>ctA	p.L255L	SH3TC1_ENST00000245105.3_Silent_p.L331L			Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	331							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						GTGGCGACCTCATCGAGATCC	0.672													5	76	---	---	---	---
N4BP2	55728	broad.mit.edu	37	4	40119567	40119567	+	Missense_Mutation	SNP	A	A	G			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	---	---	---	---
ATP10D	57205	broad.mit.edu	37	4	47538468	47538468	+	Missense_Mutation	SNP	C	C	A	rs139274170	by1000genomes	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.chr4:47538468C>A	ENST00000273859.3	+	8	1299	c.1030C>A	c.(1030-1032)Ctg>Atg	p.L344M	ATP10D_ENST00000504445.1_Missense_Mutation_p.L344M	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	344					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						TGGAATCTGGCTGAGCAGGTA	0.363													7	198	---	---	---	---
KDR	3791	broad.mit.edu	37	4	55961098	55961098	+	Missense_Mutation	SNP	C	C	A			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.chr4:55961098C>A	ENST00000263923.4	-	21	3137	c.2842G>T	c.(2842-2844)Ggg>Tgg	p.G948W		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	948	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			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)	TAGTCTTTCCCTTGACGGAAT	0.438			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)			6	86	---	---	---	---
PKD2	5311	broad.mit.edu	37	4	88957413	88957413	+	Silent	SNP	C	C	A			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.chr4:88957413C>A	ENST00000237596.2	+	3	817	c.751C>A	c.(751-753)Cgg>Agg	p.R251R		NM_000297.3	NP_000288.1	Q13563	PKD2_HUMAN	polycystic kidney disease 2 (autosomal dominant)	251						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	p.R251R(1)		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)		CTACTACACCCGGATGATGTC	0.478													5	132	---	---	---	---
GRIA2	2891	broad.mit.edu	37	4	158254059	158254059	+	Missense_Mutation	SNP	G	G	T			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.chr4:158254059G>T	ENST00000296526.7	+	7	1296	c.971G>T	c.(970-972)aGg>aTg	p.R324M	GRIA2_ENST00000507898.1_Missense_Mutation_p.R277M|GRIA2_ENST00000264426.9_Missense_Mutation_p.R324M|GRIA2_ENST00000449365.1_Missense_Mutation_p.R277M|GRIA2_ENST00000393815.2_Missense_Mutation_p.R277M	NM_000826.3	NP_000817	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	324					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)	ATCTCCCGAAGGGGGAATGCA	0.483													5	77	---	---	---	---
DDX60L	91351	broad.mit.edu	37	4	169337892	169337892	+	Missense_Mutation	SNP	A	A	C			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	---	---	---	---
ADAMTS16	170690	broad.mit.edu	37	5	5186169	5186169	+	Missense_Mutation	SNP	G	G	A			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	---	---	---	---
LIFR	3977	broad.mit.edu	37	5	38523567	38523567	+	Missense_Mutation	SNP	C	C	A			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.chr5:38523567C>A	ENST00000263409.4	-	5	677	c.515G>T	c.(514-516)tGg>tTg	p.W172L	LIFR_ENST00000453190.2_Missense_Mutation_p.W172L|LIFR_ENST00000503088.1_5'UTR	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	172					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)					TTTAATTTCCCAGATAACATT	0.348			T	PLAG1	salivary adenoma								5	102	---	---	---	---
SNX18	112574	broad.mit.edu	37	5	53814500	53814500	+	Missense_Mutation	SNP	G	G	T			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.chr5:53814500G>T	ENST00000343017.6	+	1	912	c.718G>T	c.(718-720)Ggg>Tgg	p.G240W	SNX18_ENST00000326277.3_Missense_Mutation_p.G240W|SNX18_ENST00000381410.4_Missense_Mutation_p.G240W	NM_001145427.1	NP_001138899.1	Q96RF0	SNX18_HUMAN	sorting nexin 18	240					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			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)				CAAGTCCGGCGGGGAGGCCTT	0.701													5	112	---	---	---	---
CMYA5	202333	broad.mit.edu	37	5	79034560	79034560	+	Silent	SNP	C	C	A			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.chr5:79034560C>A	ENST00000446378.2	+	2	10003	c.9972C>A	c.(9970-9972)ccC>ccA	p.P3324P		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	3324						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)		AGAAAGCTCCCATCACAGAGG	0.493													5	85	---	---	---	---
PCDHA5	56143	broad.mit.edu	37	5	140201750	140201750	+	Silent	SNP	C	C	A			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.chr5:140201750C>A	ENST00000529859.1	+	1	390	c.390C>A	c.(388-390)ccC>ccA	p.P130P	PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Silent_p.P130P|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000378126.3_Silent_p.P130P|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_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)			ACAATCCGCCCAGGTTCTCCA	0.527													5	104	---	---	---	---
PCDHGA10	56106	broad.mit.edu	37	5	140795088	140795088	+	Silent	SNP	G	G	A			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	PCDHGA8_ENST00000398604.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_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	---	---	---	---
FBXW11	23291	broad.mit.edu	37	5	171318481	171318481	+	Missense_Mutation	SNP	T	T	C			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_ENST00000265094.5_Missense_Mutation_p.N260S|FBXW11_ENST00000425623.2_Missense_Mutation_p.N228S|FBXW11_ENST00000522891.1_5'UTR|FBXW11_ENST00000393802.2_Missense_Mutation_p.N226S	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	---	---	---	---
ADAMTS2	9509	broad.mit.edu	37	5	178634552	178634552	+	Missense_Mutation	SNP	C	C	T			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	---	---	---	---
FAM50B	26240	broad.mit.edu	37	6	3850540	3850540	+	Silent	SNP	C	C	G			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	---	---	---	---
E2F3	1871	broad.mit.edu	37	6	20486928	20486928	+	Missense_Mutation	SNP	A	A	G			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	---	---	---	---
BTN3A2	11118	broad.mit.edu	37	6	26368874	26368874	+	Missense_Mutation	SNP	C	C	A			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.chr6:26368874C>A	ENST00000356386.2	+	4	355	c.167C>A	c.(166-168)cCg>cAg	p.P56Q	BTN3A2_ENST00000396948.1_Missense_Mutation_p.P56Q|BTN3A2_ENST00000396934.3_Missense_Mutation_p.P33Q|BTN3A2_ENST00000532994.1_Intron|BTN3A2_ENST00000508906.2_Missense_Mutation_p.P14Q|BTN3A2_ENST00000377708.2_Missense_Mutation_p.P56Q|BTN3A2_ENST00000527422.1_Missense_Mutation_p.P56Q	NM_001197246.2|NM_001197247.1|NM_007047.3	NP_001184175.1|NP_001184176.1|NP_008978.2	P78410	BT3A2_HUMAN	butyrophilin, subfamily 3, member A2	56	Ig-like V-type.					integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)	10						CACCTGTTCCCGACCATGAGT	0.562													6	202	---	---	---	---
TNXB	7148	broad.mit.edu	37	6	32037543	32037543	+	Missense_Mutation	SNP	C	C	T			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	---	---	---	---
ABCC10	89845	broad.mit.edu	37	6	43415021	43415021	+	Missense_Mutation	SNP	C	C	A			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.chr6:43415021C>A	ENST00000244533.3	+	15	3855	c.3496C>A	c.(3496-3498)Ctg>Atg	p.L1166M	ABCC10_ENST00000372530.4_Missense_Mutation_p.L1194M	NM_033450.2	NP_258261.2	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	1194	ABC transmembrane type-1 2.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			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)			TGCCCTGTCCCTGACGGGCCT	0.637													7	135	---	---	---	---
PLEKHG1	57480	broad.mit.edu	37	6	151153132	151153132	+	Missense_Mutation	SNP	C	C	A			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.chr6:151153132C>A	ENST00000367328.1	+	16	3197	c.2885C>A	c.(2884-2886)cCt>cAt	p.P962H	PLEKHG1_ENST00000358517.2_Missense_Mutation_p.P962H	NM_001029884.1	NP_001025055.1	Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	962					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)		CCAGAAAACCCTGACCTGGGG	0.488													8	218	---	---	---	---
FAM120B	84498	broad.mit.edu	37	6	170639605	170639605	+	Missense_Mutation	SNP	G	G	T			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_ENST00000252510.9_5'UTR|FAM120B_ENST00000537664.1_Missense_Mutation_p.D685Y|FAM120B_ENST00000540480.1_Missense_Mutation_p.D674Y	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	---	---	---	---
FAM120B	84498	broad.mit.edu	37	6	170639606	170639606	+	Missense_Mutation	SNP	A	A	T			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_ENST00000252510.9_5'UTR|FAM120B_ENST00000537664.1_Missense_Mutation_p.D685V|FAM120B_ENST00000540480.1_Missense_Mutation_p.D674V	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	---	---	---	---
GPER1	2852	broad.mit.edu	37	7	1131448	1131448	+	Silent	SNP	C	C	A			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.chr7:1131448C>A	ENST00000397092.1	+	3	968	c.84C>A	c.(82-84)tcC>tcA	p.S28S	C7orf50_ENST00000397100.2_Intron|GPER1_ENST00000401670.1_Silent_p.S28S|GPER1_ENST00000297469.3_Silent_p.S28S|C7orf50_ENST00000357429.6_Intron|C7orf50_ENST00000488073.1_Intron|GPER1_ENST00000397088.3_Silent_p.S28S|C7orf50_ENST00000397098.3_Intron	NM_001039966.1	NP_001035055.1			G protein-coupled estrogen receptor 1	28																	ACACCACCTCCCCCGAGCTCA	0.672													5	71	---	---	---	---
FOXK1	221937	broad.mit.edu	37	7	4796699	4796699	+	Missense_Mutation	SNP	G	G	T			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.chr7:4796699G>T	ENST00000328914.4	+	5	1125	c.1125G>T	c.(1123-1125)aaG>aaT	p.K375N	FOXK1_ENST00000446823.1_Missense_Mutation_p.K212N	NM_001037165.1	NP_001032242.1	P85037	FOXK1_HUMAN	forkhead box K1	375					cell differentiation|embryo development|muscle 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|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			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15)		AGCCTGGGAAGGGGTCCTTTT	0.557													6	141	---	---	---	---
AIMP2	7965	broad.mit.edu	37	7	6054935	6054935	+	Silent	SNP	C	C	A			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.chr7:6054935C>A	ENST00000223029.3	+	2	413	c.294C>A	c.(292-294)ccC>ccA	p.P98P	AIMP2_ENST00000400479.2_Silent_p.P20P|AIMP2_ENST00000395236.2_Intron	NM_006303.3	NP_006294.2	Q13155	AIMP2_HUMAN	aminoacyl tRNA synthetase complex-interacting multifunctional protein 2	98	Interaction with PARK2.		EPT -> DLS (in a lung cancer cell line; no effect on proapoptotic activity).		apoptosis|cell differentiation|multicellular organismal development|tRNA aminoacylation for protein translation	cytosol|nucleus	protein binding			large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						CGGATGAGCCCACGACTTTAA	0.458													5	97	---	---	---	---
C7orf31	136895	broad.mit.edu	37	7	25175953	25175953	+	Missense_Mutation	SNP	G	G	T	rs35154287	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.chr7:25175953G>T	ENST00000409280.1	-	10	1719	c.1411C>A	c.(1411-1413)Cta>Ata	p.L471I	C7orf31_ENST00000283905.3_Missense_Mutation_p.L471I			Q8N865	CG031_HUMAN	chromosome 7 open reading frame 31	471										autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	14						TGATCACGTAGGGGAGATTTA	0.383													7	283	---	---	---	---
BMPER	168667	broad.mit.edu	37	7	34009963	34009963	+	Missense_Mutation	SNP	G	G	T			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.chr7:34009963G>T	ENST00000297161.2	+	6	799	c.425G>T	c.(424-426)gGg>gTg	p.G142V	BMPER_ENST00000426693.1_Missense_Mutation_p.G142V	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	142	VWFC 2.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						ACAGAGTCTGGGGTGCGCTGT	0.493													6	153	---	---	---	---
ZNF789	285989	broad.mit.edu	37	7	99079801	99079801	+	Missense_Mutation	SNP	A	A	C			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_ENST00000448667.1_Intron|ZNF789_ENST00000483089.1_3'UTR|ZNF789_ENST00000331410.5_Intron|ZNF789_ENST00000493485.1_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	---	---	---	---
ZNF3	7551	broad.mit.edu	37	7	99669788	99669788	+	Missense_Mutation	SNP	T	T	C			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_ENST00000299667.4_Missense_Mutation_p.R107G|ZNF3_ENST00000424697.1_Missense_Mutation_p.R107G|ZNF3_ENST00000413658.2_Intron			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	---	---	---	---
ORAI2	80228	broad.mit.edu	37	7	102087367	102087367	+	Silent	SNP	C	C	T	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_ENST00000478730.2_Silent_p.F211F|ORAI2_ENST00000488996.1_3'UTR|ORAI2_ENST00000473939.1_Silent_p.F211F|ORAI2_ENST00000403646.3_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	---	---	---	---
PNPLA8	50640	broad.mit.edu	37	7	108142978	108142978	+	Missense_Mutation	SNP	C	C	A			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.chr7:108142978C>A	ENST00000426128.2	-	4	1440	c.1315G>T	c.(1315-1317)Ggg>Tgg	p.G439W	PNPLA8_ENST00000483879.1_5'UTR|PNPLA8_ENST00000436062.1_Missense_Mutation_p.G439W|PNPLA8_ENST00000422087.1_Missense_Mutation_p.G439W|PNPLA8_ENST00000453144.1_Missense_Mutation_p.G339W|PNPLA8_ENST00000257694.8_Missense_Mutation_p.G439W|PNPLA8_ENST00000388728.5_Missense_Mutation_p.G439W	NM_001256009.1	NP_001242938.1	Q9NP80	PLPL8_HUMAN	patatin-like phospholipase domain containing 8	439					fatty acid metabolic process|lipid catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|membrane fraction|perinuclear region of cytoplasm|peroxisomal membrane	ATP binding|calcium-independent phospholipase A2 activity|lysophospholipase activity			breast(5)|endometrium(1)|kidney(3)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(3)	29						ATTCCTCTCCCTTTCACTGGA	0.358													5	100	---	---	---	---
AASS	10157	broad.mit.edu	37	7	121753227	121753227	+	Missense_Mutation	SNP	G	G	T			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.chr7:121753227G>T	ENST00000393376.1	-	10	1318	c.1223C>A	c.(1222-1224)cCa>cAa	p.P408Q	AASS_ENST00000473553.1_Intron|AASS_ENST00000417368.2_Missense_Mutation_p.P408Q			Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase	408	Lysine-ketoglutarate reductase.				protein tetramerization	mitochondrial matrix	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54					L-Glutamic Acid(DB00142)|NADH(DB00157)	AGCTTCAATTGGGAGCTGTGC	0.403													4	49	---	---	---	---
ZNF398	57541	broad.mit.edu	37	7	148876421	148876421	+	Missense_Mutation	SNP	C	C	T			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_ENST00000426851.2_Missense_Mutation_p.P315L|ZNF398_ENST00000540950.1_Missense_Mutation_p.P491L|ZNF398_ENST00000475153.1_Missense_Mutation_p.P486L|ZNF398_ENST00000483892.1_Missense_Mutation_p.P315L|ZNF398_ENST00000491174.1_Missense_Mutation_p.P315L|ZNF398_ENST00000335901.4_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	---	---	---	---
AGAP3	116988	broad.mit.edu	37	7	150839292	150839292	+	Missense_Mutation	SNP	G	G	A			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	---	---	---	---
KMT2C	58508	broad.mit.edu	37	7	151879331	151879331	+	Nonsense_Mutation	SNP	G	G	A			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.chr7:151879331G>A	ENST00000355193.2	-	36	5832	c.5614C>T	c.(5614-5616)Cag>Tag	p.Q1872*	KMT2C_ENST00000262189.6_Nonsense_Mutation_p.Q1872*					lysine (K)-specific methyltransferase 2C																		TGAGAAGTCTGAGCCTGAGAA	0.512													27	122	---	---	---	---
PSD3	23362	broad.mit.edu	37	8	18729462	18729462	+	Silent	SNP	C	C	A			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.chr8:18729462C>A	ENST00000440756.2	-	3	1014	c.912G>T	c.(910-912)gtG>gtT	p.V304V	PSD3_ENST00000327040.8_Silent_p.V304V|PSD3_ENST00000523619.1_Silent_p.V239V			Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	304					regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		ACAGTATTTCCACTCCTTGAA	0.522													5	127	---	---	---	---
MTDH	92140	broad.mit.edu	37	8	98701313	98701313	+	Nonsense_Mutation	SNP	G	G	T			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.chr8:98701313G>T	ENST00000336273.3	+	5	1121	c.793G>T	c.(793-795)Gga>Tga	p.G265*	MTDH_ENST00000519934.1_Nonsense_Mutation_p.G242*	NM_178812.3	NP_848927.2	Q86UE4	LYRIC_HUMAN	metadherin	265					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)			ATCTGGAAAAGGAGATTCTAC	0.299													6	125	---	---	---	---
POP1	10940	broad.mit.edu	37	8	99146744	99146744	+	Missense_Mutation	SNP	G	G	T			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.chr8:99146744G>T	ENST00000401707.2	+	7	949	c.868G>T	c.(868-870)Ggg>Tgg	p.G290W	POP1_ENST00000349693.3_Missense_Mutation_p.G290W	NM_001145860.1|NM_001145861.1	NP_001139332.1|NP_001139333.1	Q99575	POP1_HUMAN	processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae)	290					tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity			autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			AAAGCGCCAAGGGAGCCTTGT	0.493													6	124	---	---	---	---
FZD6	8323	broad.mit.edu	37	8	104340581	104340581	+	Missense_Mutation	SNP	G	G	T			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.chr8:104340581G>T	ENST00000358755.4	+	5	1795	c.1478G>T	c.(1477-1479)tGg>tTg	p.W493L	FZD6_ENST00000540287.1_Missense_Mutation_p.W188L|FZD6_ENST00000523739.1_Missense_Mutation_p.W461L|FZD6_ENST00000522566.1_Missense_Mutation_p.W493L	NM_001164616.1|NM_003506.3	NP_001158088.1|NP_003497.2	O60353	FZD6_HUMAN	frizzled family receptor 6	493					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			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)			GCTGTCTTCTGGGTTGGAAGC	0.358													5	78	---	---	---	---
RIMS2	9699	broad.mit.edu	37	8	104922549	104922549	+	Splice_Site	SNP	G	G	T			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.chr8:104922549G>T	ENST00000262231.10	+	3	1297	c.1049G>T	c.(1048-1050)gGg>gTg	p.G350V	RIMS2_ENST00000507740.1_Intron|RIMS2_ENST00000406091.3_Intron|RIMS2_ENST00000436393.2_Intron	NM_001282881.1	NP_001269810.1	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	573					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)			ATACCTGTAGGGGACAGTCAA	0.343										HNSCC(12;0.0054)			6	142	---	---	---	---
PKHD1L1	93035	broad.mit.edu	37	8	110457298	110457298	+	Missense_Mutation	SNP	C	C	A			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.chr8:110457298C>A	ENST00000378402.5	+	38	5304	c.5200C>A	c.(5200-5202)Cag>Aag	p.Q1734K		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1734	IPT/TIG 9.				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)			AGTGCCTGCCCAGTGCCAGGG	0.423										HNSCC(38;0.096)			7	313	---	---	---	---
EBAG9	9166	broad.mit.edu	37	8	110575674	110575674	+	Silent	SNP	C	C	A			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.chr8:110575674C>A	ENST00000531677.1	+	6	570	c.570C>A	c.(568-570)ccC>ccA	p.P190P	EBAG9_ENST00000395785.2_Intron|EBAG9_ENST00000337573.5_Intron			O00559	RCAS1_HUMAN	estrogen receptor binding site associated, antigen, 9	174					apoptosis|regulation of cell growth	focal adhesion|Golgi membrane|integral to membrane|soluble fraction	apoptotic protease activator activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)	10			OV - Ovarian serous cystadenocarcinoma(57;1.39e-14)			TTCATCATCCCACTCCTACCT	0.438													9	451	---	---	---	---
CSMD3	114788	broad.mit.edu	37	8	113402985	113402985	+	Missense_Mutation	SNP	C	C	A			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.chr8:113402985C>A	ENST00000297405.5	-	36	6086	c.5842G>T	c.(5842-5844)Ggg>Tgg	p.G1948W	CSMD3_ENST00000352409.3_Missense_Mutation_p.G1878W|CSMD3_ENST00000455883.2_Missense_Mutation_p.G1844W|CSMD3_ENST00000343508.3_Missense_Mutation_p.G1908W	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1948	CUB 11.					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						AAAATAGTCCCTTTGCGCTTA	0.413										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			5	58	---	---	---	---
ENPP2	5168	broad.mit.edu	37	8	120606084	120606084	+	Missense_Mutation	SNP	C	C	A			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.chr8:120606084C>A	ENST00000427067.2	-	12	1157	c.977G>T	c.(976-978)aGg>aTg	p.R326M	ENPP2_ENST00000259486.6_Missense_Mutation_p.R382M|ENPP2_ENST00000075322.6_Missense_Mutation_p.R330M|ENPP2_ENST00000522826.1_Missense_Mutation_p.R330M			Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	330					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)			GTCGATTTCCCTCAGAGGATT	0.423													7	287	---	---	---	---
ATAD2	29028	broad.mit.edu	37	8	124357245	124357245	+	Missense_Mutation	SNP	C	C	A			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.chr8:124357245C>A	ENST00000287394.5	-	19	2704	c.2597G>T	c.(2596-2598)tGg>tTg	p.W866L	ATAD2_ENST00000521903.1_Missense_Mutation_p.W184L	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	866					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)			AACTATTTCCCACCACACGTG	0.393													7	258	---	---	---	---
KLHL38	340359	broad.mit.edu	37	8	124663855	124663855	+	Nonsense_Mutation	SNP	C	C	A			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.chr8:124663855C>A	ENST00000325995.7	-	1	1335	c.1312G>T	c.(1312-1314)Gga>Tga	p.G438*	CTD-2552K11.2_ENST00000524355.1_RNA	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN	kelch-like family member 38	438										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						ATGTCCTCTCCTCCAAAGAGA	0.542													6	146	---	---	---	---
FER1L6	654463	broad.mit.edu	37	8	125078687	125078687	+	Silent	SNP	C	C	A			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.chr8:125078687C>A	ENST00000522917.1	+	27	3780	c.3574C>A	c.(3574-3576)Cgg>Agg	p.R1192R	FER1L6_ENST00000399018.1_Silent_p.R1192R|FER1L6-AS2_ENST00000520031.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	1192						integral to membrane		p.R1192R(1)		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)			GAAGCCTTCCCGGAGGTCCAC	0.488													8	457	---	---	---	---
ZNF7	7553	broad.mit.edu	37	8	146066830	146066830	+	Missense_Mutation	SNP	C	C	A			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.chr8:146066830C>A	ENST00000528372.1	+	5	578	c.338C>A	c.(337-339)cCa>cAa	p.P113Q	ZNF7_ENST00000532393.1_3'UTR|ZNF7_ENST00000325217.5_Intron|ZNF7_ENST00000525266.1_Intron|ZNF7_ENST00000544249.1_Missense_Mutation_p.P17Q|ZNF7_ENST00000446747.2_Missense_Mutation_p.P124Q|ZNF7_ENST00000529819.1_Intron|ZNF7_ENST00000325241.6_Missense_Mutation_p.P113Q			P17097	ZNF7_HUMAN	zinc finger protein 7	113					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)		AGAATCTCCCCACAGGACTTT	0.473													7	260	---	---	---	---
PRUNE2	158471	broad.mit.edu	37	9	79320978	79320978	+	Missense_Mutation	SNP	C	C	A			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.chr9:79320978C>A	ENST00000428286.1	-	8	6335	c.5135G>T	c.(5134-5136)tGg>tTg	p.W1712L	PRUNE2_ENST00000376718.3_Missense_Mutation_p.W2071L			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2071					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						AGCATCTATCCACAAGTCAGG	0.517													6	186	---	---	---	---
GKAP1	80318	broad.mit.edu	37	9	86368205	86368205	+	Missense_Mutation	SNP	G	G	T			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.chr9:86368205G>T	ENST00000376371.2	-	9	1208	c.808C>A	c.(808-810)Cag>Aag	p.Q270K	GKAP1_ENST00000376365.3_Missense_Mutation_p.Q219K	NM_025211.3	NP_079487.2	Q5VSY0	GKAP1_HUMAN	G kinase anchoring protein 1	270					signal transduction	Golgi apparatus				endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	14						TTCAGCTTCTGGATTTCAGCA	0.323													6	103	---	---	---	---
NFIL3	4783	broad.mit.edu	37	9	94172257	94172257	+	Missense_Mutation	SNP	C	C	A			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.chr9:94172257C>A	ENST00000297689.3	-	2	1154	c.760G>T	c.(760-762)Ggg>Tgg	p.G254W		NM_005384.2	NP_005375.2	Q16649	NFIL3_HUMAN	nuclear factor, interleukin 3 regulated	254					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			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	16						TGTGAGTACCCAGAGAAAGAA	0.498													6	143	---	---	---	---
PALM2-AKAP2	445815	broad.mit.edu	37	9	112898650	112898650	+	Missense_Mutation	SNP	C	C	A			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.chr9:112898650C>A	ENST00000374530.3	+	8	1006	c.826C>A	c.(826-828)Ctg>Atg	p.L276M	AKAP2_ENST00000555236.1_Missense_Mutation_p.L276M|AKAP2_ENST00000374525.1_Missense_Mutation_p.L134M|AKAP2_ENST00000259318.7_Missense_Mutation_p.L45M|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.L276M|AKAP2_ENST00000434623.2_Missense_Mutation_p.L134M|AKAP2_ENST00000510514.5_Missense_Mutation_p.L276M	NM_007203.4|NM_147150.2	NP_009134.1|NP_671492.1	Q9Y2D5	AKAP2_HUMAN		45							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						CCACGAATCCCTGGATAATGA	0.507													5	124	---	---	---	---
KIAA0368	23392	broad.mit.edu	37	9	114204657	114204657	+	Silent	SNP	C	C	A			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.chr9:114204657C>A	ENST00000259335.4	-	6	851	c.852G>T	c.(850-852)gtG>gtT	p.V284V	KIAA0368_ENST00000338205.5_Silent_p.V106V	NM_001080398.1	NP_001073867.1			KIAA0368											NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						ATTGTTTTTCCACTGGTAGGC	0.398													4	32	---	---	---	---
TNC	3371	broad.mit.edu	37	9	117838732	117838732	+	Missense_Mutation	SNP	C	C	A			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.chr9:117838732C>A	ENST00000350763.4	-	8	3208	c.2797G>T	c.(2797-2799)Ggg>Tgg	p.G933W	TNC_ENST00000537320.1_Missense_Mutation_p.G933W|TNC_ENST00000346706.3_Missense_Mutation_p.G933W|TNC_ENST00000341037.4_Missense_Mutation_p.G933W|TNC_ENST00000340094.3_Missense_Mutation_p.G933W|TNC_ENST00000345230.3_Missense_Mutation_p.G933W|TNC_ENST00000423613.2_Missense_Mutation_p.G933W|TNC_ENST00000542877.1_Missense_Mutation_p.G933W|TNC_ENST00000535648.1_Missense_Mutation_p.G933W	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	933	Fibronectin type-III 4.				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						GCGTGGTCCCCTCCAGAGATG	0.522													7	228	---	---	---	---
APBB1IP	54518	broad.mit.edu	37	10	26825131	26825131	+	Silent	SNP	C	C	A			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.chr10:26825131C>A	ENST00000376236.4	+	10	1484	c.1029C>A	c.(1027-1029)ccC>ccA	p.P343P		NM_019043.3	NP_061916.3	Q7Z5R6	AB1IP_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein	343	PH.				blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						ATTATGTACCCAAAGGAAAGA	0.333													7	183	---	---	---	---
LRRC37A6P	387646	broad.mit.edu	37	10	27536421	27536421	+	RNA	SNP	G	G	T			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.chr10:27536421G>T	ENST00000574842.1	+	0	255				LRRC37A6P_ENST00000284414.4_RNA																							TTATGCTCTTGGATGAATGAA	0.567													4	38	---	---	---	---
FUT11	170384	broad.mit.edu	37	10	75533466	75533466	+	Silent	SNP	C	C	A			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.chr10:75533466C>A	ENST00000372841.3	+	2	1270	c.1227C>A	c.(1225-1227)ccC>ccA	p.P409P	FUT11_ENST00000394790.1_Silent_p.P409P|FUT11_ENST00000465695.1_3'UTR	NM_173540.2	NP_775811.2	Q495W5	FUT11_HUMAN	fucosyltransferase 11 (alpha (1,3) fucosyltransferase)	409					protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)	7	Prostate(51;0.0112)					CGGCCTCTCCCGGGGACAGCC	0.587													5	137	---	---	---	---
CHCHD1	118487	broad.mit.edu	37	10	75542178	75542178	+	Silent	SNP	C	C	A			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.chr10:75542178C>A	ENST00000372837.3	+	2	251	c.222C>A	c.(220-222)ctC>ctA	p.L74L	CHCHD1_ENST00000372833.5_Silent_p.L74L			Q96BP2	CHCH1_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 1	74	CHCH.					nucleus				breast(1)	1	Prostate(51;0.0112)					AGGGCTTCCTCGATTGTGCCG	0.537													4	98	---	---	---	---
IFIT3	3437	broad.mit.edu	37	10	91099384	91099384	+	Missense_Mutation	SNP	G	G	T			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.chr10:91099384G>T	ENST00000371818.4	+	2	1152	c.972G>T	c.(970-972)aaG>aaT	p.K324N	LIPA_ENST00000371837.1_Intron|IFIT3_ENST00000371811.4_Missense_Mutation_p.K324N|LIPA_ENST00000487618.1_Intron	NM_001549.4	NP_001540.2	O14879	IFIT3_HUMAN	interferon-induced protein with tetratricopeptide repeats 3	324					type I interferon-mediated signaling pathway		protein binding			breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)|urinary_tract(1)	15						CTCTTGAGAAGGGACTGAATC	0.413													5	57	---	---	---	---
NEURL1	9148	broad.mit.edu	37	10	105350078	105350078	+	Silent	SNP	C	C	A			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.chr10:105350078C>A	ENST00000369780.4	+	6	2083	c.1674C>A	c.(1672-1674)ccC>ccA	p.P558P	SH3PXD2A_ENST00000427662.2_Intron|NEURL_ENST00000369777.2_Silent_p.P541P	NM_004210.4	NP_004201.3	O76050	NEU1A_HUMAN		558					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)		CCTGCTGCCCCATCTGCCGCC	0.627													5	49	---	---	---	---
C10orf118	55088	broad.mit.edu	37	10	115890993	115890993	+	Missense_Mutation	SNP	G	G	T			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.chr10:115890993G>T	ENST00000369287.3	-	12	2280	c.2014C>A	c.(2014-2016)Cag>Aag	p.Q672K	C10orf118_ENST00000543782.1_Missense_Mutation_p.Q270K|C10orf118_ENST00000497592.1_5'UTR	NM_018017.2	NP_060487.2	Q7Z3E2	CJ118_HUMAN	chromosome 10 open reading frame 118	672								p.Q672K(1)		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)		TCTTCTACCTGGGTACTCAAT	0.388													7	297	---	---	---	---
EIF3A	8661	broad.mit.edu	37	10	120802285	120802285	+	Splice_Site	SNP	C	C	A	rs113384668		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.chr10:120802285C>A	ENST00000369144.3	-	19	2875		c.e19-1		EIF3A_ENST00000541549.1_Splice_Site	NM_003750.2	NP_003741.1	Q14152	EIF3A_HUMAN	eukaryotic translation initiation factor 3, subunit A						formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity			endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		TCTCCACTCCCTACACAGCAA	0.423													6	146	---	---	---	---
UBXN1	51035	broad.mit.edu	37	11	62444225	62444225	+	Nonsense_Mutation	SNP	C	C	A			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.chr11:62444225C>A	ENST00000294119.2	-	8	1035	c.904G>T	c.(904-906)Gga>Tga	p.G302*	UBXN1_ENST00000301935.5_Intron|UBXN1_ENST00000533000.1_Intron|UBXN1_ENST00000529640.1_Intron	NM_015853.3	NP_056937.2	Q04323	UBXN1_HUMAN	UBX domain protein 1	120					negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process	cytoplasm	ATPase binding|K6-linked polyubiquitin binding			endometrium(5)|lung(12)	17						CCTCCTTTTCCTAGGCATGCC	0.512													7	128	---	---	---	---
ATL3	25923	broad.mit.edu	37	11	63398754	63398754	+	Missense_Mutation	SNP	C	C	T			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_ENST00000538786.1_Missense_Mutation_p.G415S|ATL3_ENST00000332645.4_Missense_Mutation_p.G460S	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	---	---	---	---
EIF1AD	84285	broad.mit.edu	37	11	65767617	65767617	+	Translation_Start_Site	SNP	C	C	A			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.chr11:65767617C>A	ENST00000525767.1	-	0	137				EIF1AD_ENST00000533544.1_Missense_Mutation_p.G35W|EIF1AD_ENST00000526451.1_Missense_Mutation_p.G35W|EIF1AD_ENST00000312234.2_Missense_Mutation_p.G35W|EIF1AD_ENST00000527249.1_Missense_Mutation_p.G35W|EIF1AD_ENST00000529964.1_Missense_Mutation_p.G35W			Q8N9N8	EIF1A_HUMAN	eukaryotic translation initiation factor 1A domain containing							nucleus	translation initiation factor activity			lung(5)	5						AGATTGTTCCCTGGGGTCCTG	0.562													6	78	---	---	---	---
C11orf80	79703	broad.mit.edu	37	11	66571471	66571471	+	Missense_Mutation	SNP	C	C	A			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.chr11:66571471C>A	ENST00000360962.4	+	9	855	c.848C>A	c.(847-849)cCa>cAa	p.P283Q	C11orf80_ENST00000527634.1_Missense_Mutation_p.P65Q|C11orf80_ENST00000525449.2_Missense_Mutation_p.P128Q|C11orf80_ENST00000540737.1_Missense_Mutation_p.P118Q|C11orf80_ENST00000532565.2_Missense_Mutation_p.P64Q|C11orf80_ENST00000346672.4_Missense_Mutation_p.P129Q	NM_024650.3	NP_078926.3	Q8N6T0	CK080_HUMAN	chromosome 11 open reading frame 80	128										autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14						GACAGTAGACCAAATTTTGGT	0.358													8	214	---	---	---	---
SIK2	23235	broad.mit.edu	37	11	111594484	111594484	+	Silent	SNP	C	C	A			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.chr11:111594484C>A	ENST00000304987.3	+	15	2585	c.2412C>A	c.(2410-2412)tcC>tcA	p.S804S		NM_015191.1	NP_056006.1	Q9H0K1	SIK2_HUMAN	salt-inducible kinase 2	804					intracellular protein kinase cascade|regulation of insulin receptor signaling pathway	Golgi apparatus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	30						CCCTGCCCTCCACTTCCGGTC	0.672													7	234	---	---	---	---
HMBS	3145	broad.mit.edu	37	11	118960953	118960953	+	Missense_Mutation	SNP	C	C	A			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.chr11:118960953C>A	ENST00000537841.1	+	8	716	c.425C>A	c.(424-426)cCg>cAg	p.P142Q	HMBS_ENST00000543090.1_Missense_Mutation_p.P141Q|HMBS_ENST00000544387.1_Missense_Mutation_p.P159Q|HMBS_ENST00000442944.2_Missense_Mutation_p.P142Q|HMBS_ENST00000278715.3_Missense_Mutation_p.P159Q|HMBS_ENST00000534956.1_3'UTR|HMBS_ENST00000542729.1_Missense_Mutation_p.P142Q|HMBS_ENST00000392841.1_Missense_Mutation_p.P142Q			P08397	HEM3_HUMAN	hydroxymethylbilane synthase	159					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)		AGAAAGTTCCCGCATCTGGAG	0.493													5	126	---	---	---	---
HYLS1	219844	broad.mit.edu	37	11	125769839	125769839	+	Silent	SNP	C	C	A			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.chr11:125769839C>A	ENST00000425380.2	+	3	1357	c.576C>A	c.(574-576)ccC>ccA	p.P192P	HYLS1_ENST00000356438.3_Silent_p.P192P|PUS3_ENST00000227474.3_Intron|HYLS1_ENST00000526028.1_Silent_p.P192P	NM_001134793.1	NP_001128265.1	Q96M11	HYLS1_HUMAN	hydrolethalus syndrome 1	192						centrosome|nucleus				breast(1)|endometrium(1)|large_intestine(3)|skin(3)|upper_aerodigestive_tract(1)	9	all_hematologic(175;0.177)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.131)|all_lung(97;0.139)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0446)		CCAGCAGACCCAAGTCCTTTA	0.488													5	82	---	---	---	---
CHD4	1108	broad.mit.edu	37	12	6700934	6700934	+	Missense_Mutation	SNP	C	C	A			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.chr12:6700934C>A	ENST00000309577.6	-	21	3311	c.3148G>T	c.(3148-3150)Ggg>Tgg	p.G1050W	CHD4_ENST00000357008.2_Missense_Mutation_p.G1050W|CHD4_ENST00000544040.1_Missense_Mutation_p.G1043W|CHD4_ENST00000544484.1_Missense_Mutation_p.G1047W			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1050					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						AATAATTTCCCAGATGCTCTG	0.443													5	84	---	---	---	---
TPI1	7167	broad.mit.edu	37	12	6978334	6978334	+	Missense_Mutation	SNP	G	G	T			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.chr12:6978334G>T	ENST00000229270.4	+	3	759	c.422G>T	c.(421-423)gGg>gTg	p.G141V	TPI1_ENST00000535434.1_Missense_Mutation_p.G22V|TPI1_ENST00000488464.2_Missense_Mutation_p.G22V|TPI1_ENST00000396705.5_Missense_Mutation_p.G104V	NM_001159287.1	NP_001152759.1	P60174	TPIS_HUMAN	triosephosphate isomerase 1	104					fatty acid biosynthetic process|gluconeogenesis|glycolysis|pentose-phosphate shunt	cytosol	triose-phosphate isomerase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(11)|prostate(1)|skin(2)	19						CATGTCTTTGGGGAGTCAGAT	0.502											OREG0021638	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	251	---	---	---	---
CLSTN3	9746	broad.mit.edu	37	12	7295773	7295773	+	Silent	SNP	C	C	A			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.chr12:7295773C>A	ENST00000537408.1	+	11	2287	c.1749C>A	c.(1747-1749)ccC>ccA	p.P583P	CLSTN3_ENST00000266546.6_Silent_p.P571P			Q9BQT9	CSTN3_HUMAN	calsyntenin 3	571					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						ACGTGAACCCCTCACAGTCCC	0.622													6	130	---	---	---	---
PZP	5858	broad.mit.edu	37	12	9318703	9318703	+	Nonsense_Mutation	SNP	C	C	A			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.chr12:9318703C>A	ENST00000261336.2	-	18	2231	c.2203G>T	c.(2203-2205)Gaa>Taa	p.E735*	PZP_ENST00000539983.1_5'UTR|PZP_ENST00000381997.2_Nonsense_Mutation_p.E604*	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						CGCACCGTTTCAGGGACTGGC	0.438													5	132	---	---	---	---
AMIGO2	347902	broad.mit.edu	37	12	47471282	47471282	+	Missense_Mutation	SNP	C	C	A			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.chr12:47471282C>A	ENST00000266581.4	-	2	1970	c.1504G>T	c.(1504-1506)Ggg>Tgg	p.G502W	AMIGO2_ENST00000321382.3_Missense_Mutation_p.G502W|AMIGO2_ENST00000550413.1_Missense_Mutation_p.G502W|AMIGO2_ENST00000429635.1_Missense_Mutation_p.G502W	NM_181847.4	NP_862830.1	Q86SJ2	AMGO2_HUMAN	adhesion molecule with Ig-like domain 2	502					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)					TCAGATTTCCCCCTCGTGGAC	0.458													4	30	---	---	---	---
OR6C4	341418	broad.mit.edu	37	12	55945169	55945169	+	Silent	SNP	C	C	G			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	---	---	---	---
ITGA7	3679	broad.mit.edu	37	12	56088619	56088619	+	Silent	SNP	G	G	T			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.chr12:56088619G>T	ENST00000257880.7	-	16	2490	c.2271C>A	c.(2269-2271)ctC>ctA	p.L757L	ITGA7_ENST00000452168.2_Silent_p.L620L|ITGA7_ENST00000257879.6_Silent_p.L713L|ITGA7_ENST00000553804.1_Silent_p.L717L|ITGA7_ENST00000347027.6_Silent_p.L707L|ITGA7_ENST00000555728.1_Silent_p.L757L|ITGA7_ENST00000394229.2_Silent_p.L713L|ITGA7_ENST00000394230.2_Silent_p.L717L			Q13683	ITA7_HUMAN	integrin, alpha 7	757					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						GCATGACCAGGAGCTGGGCTT	0.657													4	50	---	---	---	---
HELB	92797	broad.mit.edu	37	12	66698883	66698883	+	Missense_Mutation	SNP	A	A	G			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	---	---	---	---
C12orf55	144535	broad.mit.edu	37	12	97051751	97051751	+	Missense_Mutation	SNP	C	C	A			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.chr12:97051751C>A	ENST00000524981.4	+	37	5215	c.5192C>A	c.(5191-5193)cCt>cAt	p.P1731H						chromosome 12 open reading frame 55																		TTTGAGCATCCTTTGGATGAT	0.358													6	159	---	---	---	---
STAB2	55576	broad.mit.edu	37	12	104071351	104071351	+	Missense_Mutation	SNP	C	C	A			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.chr12:104071351C>A	ENST00000388887.2	+	25	2971	c.2767C>A	c.(2767-2769)Cac>Aac	p.H923N		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	923	EGF-like 9.				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						AGGCGGCTGCCACGACAACGC	0.582													5	120	---	---	---	---
ANKLE2	23141	broad.mit.edu	37	12	133311997	133311997	+	Silent	SNP	C	C	A			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.chr12:133311997C>A	ENST00000539605.1	-	8	8193	c.1509G>T	c.(1507-1509)gtG>gtT	p.V503V	ANKLE2_ENST00000357997.5_Silent_p.V565V|ANKLE2_ENST00000337516.5_Silent_p.V565V|ANKLE2_ENST00000542374.1_5'UTR			Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	565						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)		AGTACCTTCCCACTCTCTCAA	0.493													6	124	---	---	---	---
TNFRSF19	55504	broad.mit.edu	37	13	24234605	24234605	+	Missense_Mutation	SNP	C	C	A			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.chr13:24234605C>A	ENST00000382263.3	+	7	896	c.712C>A	c.(712-714)Cgc>Agc	p.R238S	TNFRSF19_ENST00000248484.4_Missense_Mutation_p.R238S|TNFRSF19_ENST00000403372.2_Missense_Mutation_p.R106S|TNFRSF19_ENST00000382258.4_Missense_Mutation_p.R238S	NM_001204458.1	NP_001191387.1	Q9NS68	TNR19_HUMAN	tumor necrosis factor receptor superfamily, member 19	238					apoptosis|induction of apoptosis|JNK cascade	integral to membrane|mitochondrion	tumor necrosis factor receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	22		all_cancers(29;3.4e-22)|all_epithelial(30;8.75e-19)|all_lung(29;5.09e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00193)|Epithelial(112;0.0137)|OV - Ovarian serous cystadenocarcinoma(117;0.0465)|GBM - Glioblastoma multiforme(144;0.184)|Lung(94;0.19)		CTGCCAGTGCCGCCGTGACTC	0.557													3	20	---	---	---	---
ZC3H13	23091	broad.mit.edu	37	13	46559748	46559748	+	Missense_Mutation	SNP	C	C	A			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.chr13:46559748C>A	ENST00000242848.4	-	10	1752	c.1404G>T	c.(1402-1404)agG>agT	p.R468S	ZC3H13_ENST00000282007.3_Missense_Mutation_p.R468S			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	468	Arg/Ser-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)		CTCTTAGTTCCCTTCGGTCCC	0.502													6	148	---	---	---	---
DIS3	22894	broad.mit.edu	37	13	73347832	73347832	+	Missense_Mutation	SNP	C	C	T			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_ENST00000377780.4_Missense_Mutation_p.R380K|DIS3_ENST00000545453.1_Missense_Mutation_p.R248K	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	---	---	---	---
TSSK4	283629	broad.mit.edu	37	14	24676531	24676531	+	Missense_Mutation	SNP	C	C	A			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.chr14:24676531C>A	ENST00000339917.5	+	3	854	c.650C>A	c.(649-651)cCa>cAa	p.P217Q	TM9SF1_ENST00000530611.1_Intron|TSSK4_ENST00000287913.6_Missense_Mutation_p.P207Q|TSSK4_ENST00000556621.1_Missense_Mutation_p.P131Q|TM9SF1_ENST00000556387.1_Intron|TSSK4_ENST00000428351.2_Intron	NM_001184739.1|NM_174944.3	NP_001171668.1|NP_777604.2	Q6SA08	TSSK4_HUMAN	testis-specific serine kinase 4	207	Protein kinase.				cell differentiation|multicellular organismal development|positive regulation of CREB transcription factor activity|spermatogenesis		ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)	8				GBM - Glioblastoma multiforme(265;0.018)		TACGCTTGCCCAGAGATCTTA	0.537													5	136	---	---	---	---
CEP170B	283638	broad.mit.edu	37	14	105361070	105361070	+	Silent	SNP	C	C	A			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.chr14:105361070C>A	ENST00000453495.1	+	19	4776	c.4548C>A	c.(4546-4548)ccC>ccA	p.P1516P	CEP170B_ENST00000414716.3_Silent_p.P1480P|CEP170B_ENST00000418279.1_Silent_p.P1410P|CEP170B_ENST00000556508.1_Silent_p.P1445P					centrosomal protein 170B																		TCGTGGACCCCAGTGGGAGCC	0.657													5	76	---	---	---	---
AHNAK2	113146	broad.mit.edu	37	14	105418916	105418916	+	Nonsense_Mutation	SNP	C	C	A			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.chr14:105418916C>A	ENST00000333244.5	-	7	2991	c.2872G>T	c.(2872-2874)Gag>Tag	p.E958*	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	958						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)			AGAGACACCTCGCCATCGGGG	0.632													7	342	---	---	---	---
SNHG14	104472715	broad.mit.edu	37	15	25436497	25436497	+	RNA	SNP	G	G	T			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.chr15:25436497G>T	ENST00000424208.1	+	0	1092				SNHG14_ENST00000414175.1_RNA	NR_003305.1																						ACTGAGCTGCGGTGAGCCTAT	0.607													5	143	---	---	---	---
MAPKBP1	23005	broad.mit.edu	37	15	42110410	42110410	+	Missense_Mutation	SNP	G	G	T			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.chr15:42110410G>T	ENST00000457542.2	+	18	2285	c.1999G>T	c.(1999-2001)Ggg>Tgg	p.G667W	MAPKBP1_ENST00000456763.2_Missense_Mutation_p.G673W|MAPKBP1_ENST00000221214.6_Missense_Mutation_p.G550W|MAPKBP1_ENST00000260357.7_Missense_Mutation_p.G506W|MAPKBP1_ENST00000514566.1_Missense_Mutation_p.G667W	NM_014994.2	NP_055809.2	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	673										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)		AGACCCCTCAGGGATCTACAT	0.582													5	75	---	---	---	---
DUOXA2	405753	broad.mit.edu	37	15	45409938	45409938	+	Missense_Mutation	SNP	G	G	T			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.chr15:45409938G>T	ENST00000323030.5	+	6	1079	c.794G>T	c.(793-795)gGg>gTg	p.G265V	DUOXA1_ENST00000558996.1_3'UTR|DUOXA1_ENST00000559014.1_Silent_p.P409P|DUOXA1_ENST00000430224.2_Silent_p.P364P|DUOXA1_ENST00000267803.4_Silent_p.P409P	NM_207581.3	NP_997464.2	Q1HG44	DOXA2_HUMAN	dual oxidase maturation factor 2	265					protein transport	endoplasmic reticulum membrane|integral to membrane							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;2.88e-18)|GBM - Glioblastoma multiforme(94;3.95e-07)|COAD - Colon adenocarcinoma(120;0.0652)|Colorectal(133;0.0659)		TTCCTCGGAGGGGCCGTGGTG	0.622													6	104	---	---	---	---
WDR72	256764	broad.mit.edu	37	15	53992138	53992138	+	Missense_Mutation	SNP	C	C	A			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.chr15:53992138C>A	ENST00000396328.1	-	13	1813	c.1574G>T	c.(1573-1575)aGg>aTg	p.R525M	WDR72_ENST00000360509.5_Missense_Mutation_p.R525M|WDR72_ENST00000559418.1_Missense_Mutation_p.R535M|WDR72_ENST00000557913.1_Missense_Mutation_p.R522M	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	525										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)		CTGCTCACCCCTTAGCTGTGA	0.413													5	103	---	---	---	---
HERC1	8925	broad.mit.edu	37	15	63928257	63928257	+	Missense_Mutation	SNP	C	C	A			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.chr15:63928257C>A	ENST00000443617.2	-	65	12404	c.12317G>T	c.(12316-12318)tGg>tTg	p.W4106L		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	4106					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						ACCATCTCCCCAGCTAAAGAC	0.552													6	288	---	---	---	---
RBPMS2	348093	broad.mit.edu	37	15	65041350	65041350	+	Splice_Site	SNP	C	C	A	rs113425903		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.chr15:65041350C>A	ENST00000300069.4	-	5	535		c.e5-1		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						AGCGAATACCCTACATGGGTA	0.498													5	117	---	---	---	---
ADPGK	83440	broad.mit.edu	37	15	73045050	73045050	+	Missense_Mutation	SNP	G	G	A			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	---	---	---	---
LOXL1	4016	broad.mit.edu	37	15	74235269	74235269	+	Missense_Mutation	SNP	C	C	A			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.chr15:74235269C>A	ENST00000261921.7	+	2	1503	c.1177C>A	c.(1177-1179)Ctg>Atg	p.L393M		NM_005576.2	NP_005567.2	Q08397	LOXL1_HUMAN	lysyl oxidase-like 1	393	Lysyl-oxidase like.				protein deamination	extracellular space	copper ion binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10						CCTGTACTCCCTGCGCTGTGC	0.592													6	149	---	---	---	---
MAN2A2	4122	broad.mit.edu	37	15	91461494	91461494	+	Missense_Mutation	SNP	C	C	A			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.chr15:91461494C>A	ENST00000360468.3	+	20	3083	c.3065C>A	c.(3064-3066)cCg>cAg	p.P1022Q	MAN2A2_ENST00000430376.2_Missense_Mutation_p.P212Q|MAN2A2_ENST00000431652.2_Missense_Mutation_p.P530Q|MAN2A2_ENST00000559717.1_Missense_Mutation_p.P1022Q|MAN2A2_ENST00000558538.1_3'UTR	NM_006122.2	NP_006113.2	P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	1022					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)			CTGAACGCCCCGGCGCTCGCT	0.592													5	111	---	---	---	---
TMEM8A	58986	broad.mit.edu	37	16	426140	426140	+	Missense_Mutation	SNP	T	T	C			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	---	---	---	---
C16orf59	80178	broad.mit.edu	37	16	2511086	2511086	+	Silent	SNP	C	C	A			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.chr16:2511086C>A	ENST00000569496.1	+	4	525	c.466C>A	c.(466-468)Cgg>Agg	p.R156R	C16orf59_ENST00000483320.1_5'UTR|C16orf59_ENST00000563531.1_Silent_p.R156R|C16orf59_ENST00000361837.4_Silent_p.R156R			Q7L2K0	CP059_HUMAN	chromosome 16 open reading frame 59	156										lung(1)|skin(1)|urinary_tract(1)	3		Ovarian(90;0.17)				CCCTGAGCGCCGGCTGCTGTC	0.697													4	56	---	---	---	---
ADCY9	115	broad.mit.edu	37	16	4163968	4163968	+	Silent	SNP	C	C	A			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.chr16:4163968C>A	ENST00000294016.3	-	2	2014	c.1476G>T	c.(1474-1476)acG>acT	p.T492T		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	492	Guanylate cyclase 1.				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						GGACGGTGCCCGTGTGCACCC	0.567													7	208	---	---	---	---
CIITA	4261	broad.mit.edu	37	16	11012370	11012370	+	Missense_Mutation	SNP	C	C	A			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.chr16:11012370C>A	ENST00000324288.8	+	16	3269	c.3136C>A	c.(3136-3138)Ctg>Atg	p.L1046M	CIITA_ENST00000381835.5_Missense_Mutation_p.L462M	NM_000246.3	NP_000237	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	1046					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						CGCTGCATCCCTGCTCAGGCT	0.657			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """						OREG0023606	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	209	---	---	---	---
ACSM1	116285	broad.mit.edu	37	16	20682907	20682907	+	Missense_Mutation	SNP	G	G	T			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.chr16:20682907G>T	ENST00000307493.4	-	4	765	c.698C>A	c.(697-699)cCc>cAc	p.P233H	ACSM1_ENST00000520010.1_Missense_Mutation_p.P233H|ACSM1_ENST00000219151.4_5'UTR	NM_052956.2	NP_443188.2	Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1	233					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						TGCCATCTTGGGGAAGCCTGT	0.542													5	68	---	---	---	---
PLK1	5347	broad.mit.edu	37	16	23692271	23692271	+	Missense_Mutation	SNP	G	G	T			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.chr16:23692271G>T	ENST00000300093.4	+	3	725	c.614G>T	c.(613-615)gGg>gTg	p.G205V	PLK1_ENST00000564202.1_Intron	NM_005030.3	NP_005021.2	P53350	PLK1_HUMAN	polo-like kinase 1	205	Activation loop.|Protein kinase.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G2/M transition DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic prophase|negative regulation of cyclin-dependent protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|protein localization to chromatin|protein ubiquitination|regulation of mitotic anaphase|regulation of protein binding	centrosome|condensed nuclear chromosome outer kinetochore|cytosol|nucleoplasm|spindle microtubule|spindle midzone|spindle pole	anaphase-promoting complex binding|ATP binding|polo kinase kinase activity|protein kinase binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(48;0.0156)		GAATATGACGGGGAGAGGAAG	0.522													7	157	---	---	---	---
NLRC5	84166	broad.mit.edu	37	16	57116361	57116361	+	Missense_Mutation	SNP	C	C	T			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_ENST00000308149.7_Missense_Mutation_p.A1812V|NLRC5_ENST00000539144.1_Missense_Mutation_p.A1812V|NLRC5_ENST00000436936.1_3'UTR	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	---	---	---	---
ATP6V0D1	9114	broad.mit.edu	37	16	67514914	67514914	+	Missense_Mutation	SNP	C	C	A			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.chr16:67514914C>A	ENST00000290949.3	-	1	226	c.76G>T	c.(76-78)Ggg>Tgg	p.G26W	ATP6V0D1_ENST00000540149.1_Missense_Mutation_p.G26W	NM_004691.4	NP_004682.2	P61421	VA0D1_HUMAN	ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d1	26					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex				large_intestine(3)|lung(3)|urinary_tract(2)	8		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0439)|Epithelial(162;0.101)		CTGAGCACCCCGGCCTTCAGG	0.662													4	62	---	---	---	---
ZFHX3	463	broad.mit.edu	37	16	72821572	72821572	+	Nonsense_Mutation	SNP	C	C	A			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.chr16:72821572C>A	ENST00000268489.5	-	10	11275	c.10603G>T	c.(10603-10605)Gag>Tag	p.E3535*	ZFHX3_ENST00000397992.5_Nonsense_Mutation_p.E2621*	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3535					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)				AGCGCGCTCTCGCACGCCAGG	0.692													4	87	---	---	---	---
MYBBP1A	10514	broad.mit.edu	37	17	4443698	4443698	+	Missense_Mutation	SNP	C	C	A	rs150092179		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.chr17:4443698C>A	ENST00000254718.4	-	25	3685	c.3379G>T	c.(3379-3381)Ggc>Tgc	p.G1127C	MYBBP1A_ENST00000381556.2_Missense_Mutation_p.G1127C			Q9BQG0	MBB1A_HUMAN	MYB binding protein (P160) 1a	1127					nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NLS-dependent protein nuclear import complex|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						CGGCTGGAGCCGGTGGAGTGT	0.642													4	42	---	---	---	---
SLC25A11	8402	broad.mit.edu	37	17	4841355	4841355	+	Missense_Mutation	SNP	C	C	A			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.chr17:4841355C>A	ENST00000225665.7	-	7	1092	c.752G>T	c.(751-753)cGg>cTg	p.R251L	SLC25A11_ENST00000544061.2_Missense_Mutation_p.R200L	NM_001165417.1|NM_003562.4	NP_001158889.1|NP_003553.2	Q02978	M2OM_HUMAN	solute carrier family 25 (mitochondrial carrier; oxoglutarate carrier), member 11	251					gluconeogenesis	integral to plasma membrane|mitochondrial inner membrane	oxoglutarate:malate antiporter activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)	10						ATCAATCATCCGCATGTTCTG	0.622													4	137	---	---	---	---
NUFIP2	57532	broad.mit.edu	37	17	27613720	27613720	+	Missense_Mutation	SNP	C	C	A			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.chr17:27613720C>A	ENST00000225388.4	-	2	1350	c.1292G>T	c.(1291-1293)gGg>gTg	p.G431V	NUFIP2_ENST00000579665.1_Intron	NM_020772.2	NP_065823.1	Q7Z417	NUFP2_HUMAN	nuclear fragile X mental retardation protein interacting protein 2	431						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)			TGGCTGACCCCCTGGAGGATA	0.468													5	55	---	---	---	---
BLMH	642	broad.mit.edu	37	17	28599836	28599836	+	Missense_Mutation	SNP	C	C	A			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.chr17:28599836C>A	ENST00000261714.6	-	8	1057	c.883G>T	c.(883-885)Ggg>Tgg	p.G295W	BLMH_ENST00000394819.3_Missense_Mutation_p.G208W	NM_000386.3	NP_000377.1	Q13867	BLMH_HUMAN	bleomycin hydrolase	295					proteolysis	cytoplasm|nucleus	aminopeptidase activity|carboxypeptidase activity|cysteine-type endopeptidase activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|stomach(1)	13						GTTTTTCTCCCTCCAACCATA	0.403													5	99	---	---	---	---
SLFN11	91607	broad.mit.edu	37	17	33690684	33690684	+	Missense_Mutation	SNP	C	C	A			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.chr17:33690684C>A	ENST00000394566.1	-	4	415	c.143G>T	c.(142-144)cGg>cTg	p.R48L	SLFN11_ENST00000308377.4_Missense_Mutation_p.R48L	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	48						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)		ACATGCAGCCCGCATAACTCT	0.458													6	201	---	---	---	---
C17orf78	284099	broad.mit.edu	37	17	35736258	35736258	+	Missense_Mutation	SNP	C	C	G			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	ACACA_ENST00000416895.1_Intron|ACACA_ENST00000353139.5_Intron|C17orf78_ENST00000586700.1_Missense_Mutation_p.S110C	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	---	---	---	---
RAB5C	5878	broad.mit.edu	37	17	40280784	40280784	+	Missense_Mutation	SNP	G	G	T			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	CTD-2132N18.3_ENST00000592574.1_Missense_Mutation_p.D67E|RAB5C_ENST00000547517.1_Missense_Mutation_p.D100E|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	---	---	---	---
SPOP	8405	broad.mit.edu	37	17	47696643	47696643	+	Missense_Mutation	SNP	A	A	C			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_ENST00000347630.2_Missense_Mutation_p.F102C|SPOP_ENST00000393328.2_Missense_Mutation_p.F102C|SPOP_ENST00000503676.1_Missense_Mutation_p.F102C|SPOP_ENST00000504102.1_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)			15	79	---	---	---	---
UTP18	51096	broad.mit.edu	37	17	49371301	49371301	+	Missense_Mutation	SNP	C	C	A			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.chr17:49371301C>A	ENST00000225298.7	+	12	1598	c.1541C>A	c.(1540-1542)cCa>cAa	p.P514Q		NM_016001.2	NP_057085.2	Q9Y5J1	UTP18_HUMAN	UTP18 small subunit (SSU) processome component homolog (yeast)	514					rRNA processing	nucleolus				breast(2)|endometrium(3)|kidney(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16			BRCA - Breast invasive adenocarcinoma(22;2.09e-07)			TCAAACTTCCCAGTCATTAAA	0.368													4	35	---	---	---	---
WIPI1	55062	broad.mit.edu	37	17	66432555	66432555	+	Missense_Mutation	SNP	C	C	A			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.chr17:66432555C>A	ENST00000262139.5	-	5	495	c.496G>T	c.(496-498)Ggg>Tgg	p.G166W	WIPI1_ENST00000546360.1_Missense_Mutation_p.G84W|WIPI1_ENST00000589459.1_5'UTR	NM_017983.5	NP_060453.3	Q5MNZ9	WIPI1_HUMAN	WD repeat domain, phosphoinositide interacting 1	166					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						ACAATCTCCCCTGAAGTCAGG	0.502											OREG0024688	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	102	---	---	---	---
PRPSAP1	5635	broad.mit.edu	37	17	74308971	74308971	+	Nonsense_Mutation	SNP	C	C	A			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.chr17:74308971C>A	ENST00000446526.3	-	9	1424	c.979G>T	c.(979-981)Gag>Tag	p.E327*	PRPSAP1_ENST00000588364.1_5'UTR|PRPSAP1_ENST00000324684.4_Nonsense_Mutation_p.E224*	NM_002766.2	NP_002757.2	Q14558	KPRA_HUMAN	phosphoribosyl pyrophosphate synthetase-associated protein 1	298					nucleotide biosynthetic process		enzyme inhibitor activity|identical protein binding|magnesium ion binding|ribose phosphate diphosphokinase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	17						GAGGACTCCTCAATCAGGCGA	0.478													5	118	---	---	---	---
HEXDC	284004	broad.mit.edu	37	17	80382311	80382311	+	Silent	SNP	C	C	A			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.chr17:80382311C>A	ENST00000337014.6	+	3	600	c.126C>A	c.(124-126)ctC>ctA	p.L42L	HEXDC_ENST00000577944.1_Silent_p.L42L|HEXDC_ENST00000327949.9_Silent_p.L42L	NM_173620.2	NP_775891.2	Q8WVB3	HEXDC_HUMAN	hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing	42					carbohydrate metabolic process	cytoplasm|nucleus	beta-N-acetylhexosaminidase activity|cation binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			ACGGCCTCCTCATTGAGTATG	0.582													5	110	---	---	---	---
HEXDC	284004	broad.mit.edu	37	17	80398917	80398917	+	Missense_Mutation	SNP	G	G	T			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.chr17:80398917G>T	ENST00000337014.6	+	10	1501	c.1027G>T	c.(1027-1029)Ggg>Tgg	p.G343W	HEXDC_ENST00000577944.1_Missense_Mutation_p.G343W|HEXDC_ENST00000327949.9_Missense_Mutation_p.G343W	NM_173620.2	NP_775891.2	Q8WVB3	HEXDC_HUMAN	hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing	343					carbohydrate metabolic process	cytoplasm|nucleus	beta-N-acetylhexosaminidase activity|cation binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			GAACCTTCTCGGGATTTCCAG	0.592													5	268	---	---	---	---
LAMA1	284217	broad.mit.edu	37	18	6943285	6943285	+	Missense_Mutation	SNP	G	G	C			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	---	---	---	---
SLC14A1	6563	broad.mit.edu	37	18	43311098	43311098	+	Silent	SNP	C	C	A			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.chr18:43311098C>A	ENST00000321925.4	+	4	502	c.270C>A	c.(268-270)ccC>ccA	p.P90P	RP11-116O18.3_ENST00000589510.1_RNA|SLC14A1_ENST00000591943.1_3'UTR|SLC14A1_ENST00000535474.1_Intron|SLC14A1_ENST00000589700.1_Silent_p.P90P|SLC14A1_ENST00000436407.3_Silent_p.P146P|SLC14A1_ENST00000415427.3_Silent_p.P146P|SLC14A1_ENST00000402943.2_5'UTR|SLC14A1_ENST00000502059.2_Intron|SLC14A1_ENST00000586142.1_Silent_p.P90P	NM_001128588.3|NM_001146036.2|NM_015865.6	NP_001122060.3|NP_001139508.2|NP_056949.4	Q13336	UT1_HUMAN	solute carrier family 14 (urea transporter), member 1	90						integral to plasma membrane	urea transmembrane transporter activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	21						TTCAGAACCCCTGGTGGGCTC	0.547													5	70	---	---	---	---
ATP8B1	5205	broad.mit.edu	37	18	55319857	55319857	+	Silent	SNP	C	C	A			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.chr18:55319857C>A	ENST00000536015.1	-	25	3239	c.3120G>T	c.(3118-3120)ggG>ggT	p.G1040G	RP11-35G9.3_ENST00000592201.1_RNA|RP11-35G9.3_ENST00000599199.1_RNA|RP11-35G9.5_ENST00000588925.1_RNA|RP11-35G9.3_ENST00000591854.1_RNA|ATP8B1_ENST00000283684.4_Silent_p.G1040G	NM_005603.4	NP_005594	O43520	AT8B1_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 1	1040			G -> R (in PFIC1).		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)				ATGTTAGGACCCCATGCAACA	0.463													6	99	---	---	---	---
KDM4B	23030	broad.mit.edu	37	19	5144058	5144058	+	Silent	SNP	C	C	A			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.chr19:5144058C>A	ENST00000159111.4	+	19	2849	c.2631C>A	c.(2629-2631)tcC>tcA	p.S877S	KDM4B_ENST00000536461.1_Silent_p.S911S	NM_015015.2	NP_055830	O94953	KDM4B_HUMAN	lysine (K)-specific demethylase 4B	877					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						GCTCCACGTCCTTCCACGTGA	0.627													5	101	---	---	---	---
HNRNPM	4670	broad.mit.edu	37	19	8551064	8551064	+	Missense_Mutation	SNP	G	G	T			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.chr19:8551064G>T	ENST00000348943.3	+	15	1867	c.1635G>T	c.(1633-1635)atG>atT	p.M545I	HNRNPM_ENST00000325495.4_Missense_Mutation_p.M584I	NM_031203.3	NP_112480.2	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M	584	27 X 6 AA repeats of [GEVSTPAN]-[ILMV]- [DE]-[RH]-[MLVI]-[GAV].				alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles	nucleotide binding|protein domain specific binding|RNA binding			endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						TGGAGCGCATGGGTGCCAACA	0.721													5	98	---	---	---	---
OR7G1	125962	broad.mit.edu	37	19	9225971	9225971	+	Missense_Mutation	SNP	G	G	T			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.chr19:9225971G>T	ENST00000293614.1	-	1	468	c.469C>A	c.(469-471)Ctg>Atg	p.L157M	OR7G1_ENST00000541538.1_Missense_Mutation_p.L157M			Q8NGA0	OR7G1_HUMAN	olfactory receptor, family 7, subfamily G, member 1	157					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	20						CTCTGAACCAGGGCATCCATA	0.483													5	110	---	---	---	---
RAVER1	125950	broad.mit.edu	37	19	10439413	10439413	+	Missense_Mutation	SNP	G	G	T			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.chr19:10439413G>T	ENST00000293677.6	-	3	793	c.712C>A	c.(712-714)Cgc>Agc	p.R238S		NM_133452.2	NP_597709.2	Q8IY67	RAVR1_HUMAN	ribonucleoprotein, PTB-binding 1	221	RRM 3.					cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding			breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	18			OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)			CAGAGGCAGCGGGAGTGGAGA	0.672													3	28	---	---	---	---
ZNF790	388536	broad.mit.edu	37	19	37314238	37314238	+	Missense_Mutation	SNP	C	C	A			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.chr19:37314238C>A	ENST00000356725.4	-	4	298	c.178G>T	c.(178-180)Ggg>Tgg	p.G60W	CTD-2162K18.5_ENST00000588906.1_RNA|CTD-2162K18.5_ENST00000587278.1_RNA	NM_001242802.1|NM_206894.3	NP_001229731.1|NP_996777.2	Q6PG37	ZN790_HUMAN	zinc finger protein 790	60	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	32	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			GGCTCTTTCCCTTTCTCCAAT	0.453													4	43	---	---	---	---
MEGF8	1954	broad.mit.edu	37	19	42880167	42880167	+	Missense_Mutation	SNP	G	G	T			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.chr19:42880167G>T	ENST00000334370.4	+	41	8212	c.7577G>T	c.(7576-7578)cGg>cTg	p.R2526L	MEGF8_ENST00000251268.6_Missense_Mutation_p.R2593L|MEGF8_ENST00000378073.4_Missense_Mutation_p.R187L	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	2593						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)				CGCGGCGTGCGGGACCGGCTG	0.692													4	98	---	---	---	---
ZNF576	79177	broad.mit.edu	37	19	44103213	44103213	+	Missense_Mutation	SNP	A	A	C			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_ENST00000525771.1_Missense_Mutation_p.T106P|ZNF576_ENST00000533118.1_Missense_Mutation_p.T106P|SRRM5_ENST00000526798.1_Intron|ZNF576_ENST00000529930.1_Missense_Mutation_p.T106P|SRRM5_ENST00000607544.1_Intron|ZNF576_ENST00000528387.1_Missense_Mutation_p.T106P|ZNF576_ENST00000391965.2_Missense_Mutation_p.T106P	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	---	---	---	---
CADM4	199731	broad.mit.edu	37	19	44131831	44131831	+	Missense_Mutation	SNP	G	G	T			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.chr19:44131831G>T	ENST00000222374.2	-	2	224	c.176C>A	c.(175-177)cCa>cAa	p.P59Q		NM_145296.1	NP_660339.1	Q8NFZ8	CADM4_HUMAN	cell adhesion molecule 4	59	Ig-like V-type.				cell adhesion	integral to membrane				endometrium(2)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	12		Prostate(69;0.0199)				CTGCCGGGCTGGGTTCTGGAT	0.587													5	140	---	---	---	---
TBC1D20	128637	broad.mit.edu	37	20	419417	419417	+	Missense_Mutation	SNP	C	C	A			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.chr20:419417C>A	ENST00000354200.4	-	8	1172	c.1025G>T	c.(1024-1026)cGg>cTg	p.R342L	TBC1D20_ENST00000461188.1_5'UTR	NM_144628.2	NP_653229.1	Q96BZ9	TBC20_HUMAN	TBC1 domain family, member 20	342					interspecies interaction between organisms	integral to membrane|intracellular	Rab GTPase activator activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	12		all_epithelial(17;0.228)|Breast(17;0.231)				AAACCGCTGCCGCAGCACCAT	0.557													4	129	---	---	---	---
NSFL1C	55968	broad.mit.edu	37	20	1433744	1433744	+	Silent	SNP	C	C	A			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.chr20:1433744C>A	ENST00000216879.4	-	6	1446	c.579G>T	c.(577-579)ctG>ctT	p.L193L	NSFL1C_ENST00000461211.1_5'UTR|NSFL1C_ENST00000476071.1_Silent_p.L195L|NSFL1C_ENST00000353088.2_Silent_p.L162L|NSFL1C_ENST00000350991.4_Silent_p.L195L|NSFL1C_ENST00000381658.4_Silent_p.L82L	NM_016143.4	NP_057227.2	Q9UNZ2	NSF1C_HUMAN	NSFL1 (p97) cofactor (p47)	193	SEP.					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						CTCCATTATCCAGGCTGAATC	0.468													6	204	---	---	---	---
SEL1L2	80343	broad.mit.edu	37	20	13856749	13856749	+	Missense_Mutation	SNP	C	C	A			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.chr20:13856749C>A	ENST00000284951.5	-	12	1113	c.1039G>T	c.(1039-1041)Ggg>Tgg	p.G347W	SEL1L2_ENST00000486903.1_5'UTR|SEL1L2_ENST00000378072.5_Missense_Mutation_p.G347W			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	347						integral to membrane	binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						GCAGCATTCCCCTCTAAATAC	0.368													6	140	---	---	---	---
C20orf26	26074	broad.mit.edu	37	20	20180496	20180496	+	Missense_Mutation	SNP	C	C	A	rs116508993	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.chr20:20180496C>A	ENST00000245957.5	+	17	1958	c.1882C>A	c.(1882-1884)Ctg>Atg	p.L628M	C20orf26_ENST00000389656.3_5'UTR|C20orf26_ENST00000377309.2_5'UTR	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN	chromosome 20 open reading frame 26	628										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)		TGTCTATCCTCTGGAAAAGCT	0.602													7	151	---	---	---	---
CEP250	11190	broad.mit.edu	37	20	34078501	34078501	+	Missense_Mutation	SNP	G	G	T			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.chr20:34078501G>T	ENST00000397527.1	+	21	3345	c.2625G>T	c.(2623-2625)aaG>aaT	p.K875N	CEP250_ENST00000342580.4_Intron|RP3-477O4.14_ENST00000444933.1_RNA|RP3-477O4.14_ENST00000453914.1_RNA|RP3-477O4.14_ENST00000416260.1_RNA	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	875	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			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)			AGCTGGCAAAGGCTCTGGAGA	0.547													5	101	---	---	---	---
CEP250	11190	broad.mit.edu	37	20	34092575	34092575	+	Silent	SNP	C	C	A			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.chr20:34092575C>A	ENST00000397527.1	+	30	7098	c.6378C>A	c.(6376-6378)ccC>ccA	p.P2126P	CEP250_ENST00000342580.4_Silent_p.P2070P	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	2126	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			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)			AAGCCTTACCCCACAGCCACA	0.537													6	127	---	---	---	---
CABLES2	81928	broad.mit.edu	37	20	60966501	60966501	+	Missense_Mutation	SNP	C	C	A			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.chr20:60966501C>A	ENST00000279101.5	-	9	1108	c.1100G>T	c.(1099-1101)cGg>cTg	p.R367L		NM_031215.2	NP_112492.2	Q9BTV7	CABL2_HUMAN	Cdk5 and Abl enzyme substrate 2	367					cell cycle|cell division|regulation of cell cycle|regulation of cell division		cyclin-dependent protein kinase regulator activity			endometrium(2)|kidney(1)|lung(6)|pancreas(1)|skin(1)	11	Breast(26;2.05e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			CCGCATCTCCCGCTTTAAGCT	0.642													5	134	---	---	---	---
NPBWR2	2832	broad.mit.edu	37	20	62737951	62737951	+	Silent	SNP	C	C	T	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	---	---	---	---
USP18	11274	broad.mit.edu	37	22	18640582	18640582	+	Missense_Mutation	SNP	C	C	A			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.chr22:18640582C>A	ENST00000215794.7	+	2	582	c.152C>A	c.(151-153)cCt>cAt	p.P51H		NM_017414.3	NP_059110.2	Q9UMW8	UBP18_HUMAN	ubiquitin specific peptidase 18	51					regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway|ubiquitin-dependent protein catabolic process	cytosol|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|stomach(1)	10						TGGGACTACCCTCATGGTCAT	0.552													6	113	---	---	---	---
THAP7	80764	broad.mit.edu	37	22	21355055	21355055	+	Missense_Mutation	SNP	C	C	A			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.chr22:21355055C>A	ENST00000215742.4	-	3	432	c.258G>T	c.(256-258)gaG>gaT	p.E86D	THAP7_ENST00000399133.2_Missense_Mutation_p.E86D	NM_030573.2	NP_085050.2	Q9BT49	THAP7_HUMAN	THAP domain containing 7	86					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)			GGACTGCCCCCTCCTTTAGCC	0.602													6	125	---	---	---	---
PATZ1	23598	broad.mit.edu	37	22	31741056	31741056	+	Missense_Mutation	SNP	G	G	T			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.chr22:31741056G>T	ENST00000266269.5	-	1	1162	c.533C>A	c.(532-534)cCt>cAt	p.P178H	PATZ1_ENST00000405309.3_Missense_Mutation_p.P178H|PATZ1_ENST00000351933.4_Missense_Mutation_p.P178H|PATZ1_ENST00000215919.3_Missense_Mutation_p.P178H	NM_014323.2	NP_055138.2	Q9HBE1	PATZ1_HUMAN	POZ (BTB) and AT hook containing zinc finger 1	178					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						CGAGGTCCCAGGGGGGCGAAA	0.592													5	122	---	---	---	---
KIF4A	24137	broad.mit.edu	37	X	69550106	69550106	+	Missense_Mutation	SNP	G	G	T			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.chrX:69550106G>T	ENST00000374403.3	+	9	1077	c.995G>T	c.(994-996)aGa>aTa	p.R332I	KIF4A_ENST00000374388.3_Missense_Mutation_p.R332I	NM_012310.4	NP_036442.3	O95239	KIF4A_HUMAN	kinesin family member 4A	332	Kinesin-motor.				anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization	chromosome|cytosol|midbody|nuclear matrix|spindle microtubule	ATP binding|DNA binding|microtubule motor activity|protein binding			breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						TATGCTGACAGAGCAAGAAAA	0.388													5	109	---	---	---	---
PCDH11X	27328	broad.mit.edu	37	X	91134001	91134001	+	Missense_Mutation	SNP	G	G	T			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.chrX:91134001G>T	ENST00000373094.1	+	2	3607	c.2762G>T	c.(2761-2763)tGg>tTg	p.W921L	PCDH11X_ENST00000361724.1_Missense_Mutation_p.W921L|PCDH11X_ENST00000395337.2_Missense_Mutation_p.W921L|PCDH11X_ENST00000361655.2_Missense_Mutation_p.W921L|PCDH11X_ENST00000406881.1_Missense_Mutation_p.W921L|PCDH11X_ENST00000373088.1_Missense_Mutation_p.W921L|PCDH11X_ENST00000504220.2_Missense_Mutation_p.W921L|PCDH11X_ENST00000298274.8_Missense_Mutation_p.W921L|PCDH11X_ENST00000373097.1_Missense_Mutation_p.W921L	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	921					homophilic cell adhesion	integral to plasma membrane	calcium ion binding	p.W921L(3)		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						AAGTACAATTGGGTAACTACA	0.448													6	128	---	---	---	---
MAGOH	4116	broad.mit.edu	37	1	53692751	53692752	+	Frame_Shift_Del	DEL	AG	AG	-			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)cttfs	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	---	---	---	---
MRPS25	64432	broad.mit.edu	37	3	15094107	15094108	+	Frame_Shift_Ins	INS	-	-	T			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)aagfs	p.K121fs	MRPS25_ENST00000444840.2_Frame_Shift_Ins_p.S92fs|MRPS25_ENST00000449354.2_Intron	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	---	---	---	---
CDH9	1007	broad.mit.edu	37	5	26886127	26886127	+	Frame_Shift_Del	DEL	T	T	-			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)gaafs	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	---	---	---	---
DUSP13	51207	broad.mit.edu	37	10	76855428	76855429	+	Frame_Shift_Ins	INS	-	-	AA			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)tatfs	p.Y229fs	DUSP13_ENST00000478873.2_Frame_Shift_Ins_p.Y236fs|DUSP13_ENST00000605915.1_Frame_Shift_Ins_p.Y122fs|DUSP13_ENST00000472493.2_Frame_Shift_Ins_p.Y100fs|DUSP13_ENST00000607131.1_Frame_Shift_Ins_p.Y193fs|DUSP13_ENST00000372700.3_Frame_Shift_Ins_p.Y150fs|DUSP13_ENST00000372702.3_3'UTR|DUSP13_ENST00000464872.1_Intron	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	---	---	---	---
CEP112	201134	broad.mit.edu	37	17	63739297	63739297	+	Frame_Shift_Del	DEL	T	T	-			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.chr17:63739297delT	ENST00000392769.2	-	23	2714	c.2496delA	c.(2494-2496)aaafs	p.K832fs	CEP112_ENST00000537949.1_Frame_Shift_Del_p.K790fs|CEP112_ENST00000580482.1_5'UTR|CEP112_ENST00000535342.2_Frame_Shift_Del_p.K832fs|CEP112_ENST00000317442.8_Frame_Shift_Del_p.K88fs|CEP112_ENST00000541355.1_Intron	NM_145036.3	NP_659473.2	Q8N8E3	CE112_HUMAN	centrosomal protein 112kDa	832						centrosome				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	28						TGTTCTCTTCTTTCAGAGAGG	0.408													40	152	---	---	---	---
