Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
RDH11	51109	broad.mit.edu	37	14	68151825	68151825	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr14:68151825G>C	ENST00000381346.4	-	6	871	c.761C>G	c.(760-762)tCc>tGc	p.S254C	RP11-1012A1.4_ENST00000553306.1_Missense_Mutation_p.P85A|RDH11_ENST00000553384.1_Missense_Mutation_p.S241C|RDH11_ENST00000428130.2_Missense_Mutation_p.S184C|RP11-1012A1.4_ENST00000554493.1_5'UTR	NM_001252650.1|NM_016026.3	NP_001239579.1|NP_057110.3	Q8TC12	RDH11_HUMAN	retinol dehydrogenase 11 (all-trans/9-cis/11-cis)	254					retinol metabolic process|steroid metabolic process	endoplasmic reticulum membrane|integral to membrane	binding|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)	12				all cancers(60;0.00047)|OV - Ovarian serous cystadenocarcinoma(108;0.00206)|BRCA - Breast invasive adenocarcinoma(234;0.00924)	Vitamin A(DB00162)	GATGAAAAAGGAGAAAAGCCA	0.493000													4	64					0	0	1	0	0
CACNA2D1	781	broad.mit.edu	37	7	81964507	81964507	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr7:81964507C>G	ENST00000356860.3	-	3	576	c.238G>C	c.(238-240)Gaa>Caa	p.E80Q	CACNA2D1_ENST00000423588.1_Missense_Mutation_p.E80Q|CACNA2D1_ENST00000356253.5_Missense_Mutation_p.E80Q	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	80						voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	GCTGCAATTTCTACCAGCTGG	0.343000													57	106					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100686943	100686943	+	Silent	SNP	G	G	A			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr7:100686943G>A	ENST00000306151.4	+	3	12310	c.12246G>A	c.(12244-12246)acG>acA	p.T4082T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	4082						extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CCTCCTCCACGACTGTGAACC	0.572000													40	280					0	0	1	0	0
CACNA1G	8913	broad.mit.edu	37	17	48678416	48678416	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr17:48678416C>T	ENST00000352832.5	+	18	4099	c.3727C>T	c.(3727-3729)Cgc>Tgc	p.R1243C	CACNA1G_ENST00000416767.4_Missense_Mutation_p.R1266C|CACNA1G_ENST00000515411.1_Missense_Mutation_p.R1266C|CACNA1G_ENST00000515165.1_Missense_Mutation_p.R1266C|CACNA1G_ENST00000515765.1_Missense_Mutation_p.R1266C|CACNA1G_ENST00000514717.1_Missense_Mutation_p.R1243C|CACNA1G_ENST00000358244.5_Missense_Mutation_p.R1243C|CACNA1G_ENST00000514079.1_Missense_Mutation_p.R1266C|CACNA1G_ENST00000513964.1_Missense_Mutation_p.R1266C|CACNA1G_ENST00000505165.1_Missense_Mutation_p.R1266C|CACNA1G_ENST00000359106.5_Missense_Mutation_p.R1266C|CACNA1G_ENST00000513689.2_Missense_Mutation_p.R1266C|CACNA1G_ENST00000510366.1_Missense_Mutation_p.R1266C|CACNA1G_ENST00000510115.1_Missense_Mutation_p.R1243C|CACNA1G_ENST00000503485.1_Missense_Mutation_p.R1266C|CACNA1G_ENST00000507510.2_Missense_Mutation_p.R1266C|CACNA1G_ENST00000502264.1_Missense_Mutation_p.R1243C|CACNA1G_ENST00000512389.1_Missense_Mutation_p.R1266C|CACNA1G_ENST00000507609.1_Missense_Mutation_p.R1266C|CACNA1G_ENST00000507336.1_Missense_Mutation_p.R1266C|CACNA1G_ENST00000360761.4_Missense_Mutation_p.R1243C|CACNA1G_ENST00000442258.2_Missense_Mutation_p.R1243C|CACNA1G_ENST00000507896.1_Missense_Mutation_p.R1266C|CACNA1G_ENST00000514181.1_Missense_Mutation_p.R1266C|CACNA1G_ENST00000354983.4_Missense_Mutation_p.R1243C|CACNA1G_ENST00000429973.2_Missense_Mutation_p.R1266C	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1266					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	GGGCAGGTTCCGCCTCCTGTG	0.637000													3	47					0	0	1	0	0
USP31	57478	broad.mit.edu	37	16	23116857	23116857	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr16:23116857G>C	ENST00000219689.7	-	5	993	c.994C>G	c.(994-996)Cac>Gac	p.H332D		NM_020718.3	NP_065769.3	Q70CQ4	UBP31_HUMAN	ubiquitin specific peptidase 31	332					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		CTCATGCAGTGAGAACATTTG	0.438000													10	33					0	0	1	0	0
ATP6V1E1	529	broad.mit.edu	37	22	18083871	18083871	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr22:18083871C>A	ENST00000253413.5	-	5	535	c.353G>T	c.(352-354)gGa>gTa	p.G118V	ATP6V1E1_ENST00000399796.2_Intron|ATP6V1E1_ENST00000399798.2_Missense_Mutation_p.G96V	NM_001696.3	NP_001687.1	P36543	VATE1_HUMAN	ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E1	118					cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	apical plasma membrane|cytosol|endosome|proton-transporting two-sector ATPase complex, catalytic domain	protein binding|proton-transporting ATPase activity, rotational mechanism			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|urinary_tract(1)	10		all_epithelial(15;0.206)		Lung(27;0.19)		GAGAACCAGTCCATCCAGCAG	0.403000													41	69					3.05275e-18	3.19391e-18	1	1	0
C7orf63	79846	broad.mit.edu	37	7	89929196	89929196	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr7:89929196T>A	ENST00000389297.4	+	17	2124	c.1873T>A	c.(1873-1875)Ttc>Atc	p.F625I	C7orf63_ENST00000497910.1_Missense_Mutation_p.F607I|C7orf63_ENST00000316089.8_Missense_Mutation_p.F625I	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN	chromosome 7 open reading frame 63	625							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						CCAAAAAAAATTCTGTAATCT	0.323000													8	10					0	0	1	0	0
JAKMIP1	152789	broad.mit.edu	37	4	6055779	6055779	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr4:6055779C>T	ENST00000409021.3	-	13	2253	c.1804G>A	c.(1804-1806)Gaa>Aaa	p.E602K	JAKMIP1_ENST00000282924.5_Missense_Mutation_p.E602K|JAKMIP1_ENST00000409371.3_Missense_Mutation_p.E417K|JAKMIP1_ENST00000410077.2_Missense_Mutation_p.E437K|JAKMIP1_ENST00000409831.1_Missense_Mutation_p.E602K	NM_001099433.1	NP_001092903.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	602	Mediates interaction with TYK2 and GABBR1.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TCTCTTACTTCGAGTTCTAGC	0.403000													9	135					0	0	1	0	0
KIAA2022	340533	broad.mit.edu	37	X	73964209	73964209	+	Silent	SNP	G	G	A			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chrX:73964209G>A	ENST00000373468.1	-	3	834	c.183C>T	c.(181-183)ccC>ccT	p.P61P	KIAA2022_ENST00000055682.5_Silent_p.P61P			Q5QGS0	K2022_HUMAN	KIAA2022	61					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						GGAGACCTCTGGGATACATCA	0.537000													3	9					0	0	1	0	0
MAN2B1	4125	broad.mit.edu	37	19	12776599	12776599	+	Silent	SNP	C	C	T			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr19:12776599C>T	ENST00000456935.2	-	2	220	c.180G>A	c.(178-180)ccG>ccA	p.P60P	MAN2B1_ENST00000221363.4_Silent_p.P60P|CTD-2192J16.24_ENST00000597961.1_Silent_p.P57P	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	60					protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TCAGCATGTTCGGCTGCACTG	0.547000													15	33					0	0	1	0	0
FAM65B	9750	broad.mit.edu	37	6	24843781	24843781	+	Splice_Site	SNP	G	G	C			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr6:24843781G>C	ENST00000259698.4	-	14	1404	c.1227_splice	c.e14-1	p.S410_splice	FAM65B_ENST00000540914.1_Splice_Site_p.S360_splice|FAM65B_ENST00000538035.1_Splice_Site_p.S389_splice|FAM65B_ENST00000510784.2_Splice_Site_p.S394_splice|FAM65B_ENST00000378023.4_Splice_Site_p.S360_splice	NM_014722.2	NP_055537.2	Q9Y4F9	FA65B_HUMAN	family with sequence similarity 65, member B	410					cell differentiation|muscle organ development	cytoskeleton|filopodium|mitochondrion	binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	25						AGGTAGATTTGACTATAGATA	0.413000													3	17					0	0	1	0	0
FRMD6	122786	broad.mit.edu	37	14	52156612	52156612	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr14:52156612A>G	ENST00000395718.2	+	2	343	c.58A>G	c.(58-60)Att>Gtt	p.I20V	FRMD6_ENST00000344768.5_Missense_Mutation_p.I20V|FRMD6_ENST00000356218.4_Missense_Mutation_p.I20V	NM_001267046.1|NM_152330.3	NP_001253975.1|NP_689543.1	Q96NE9	FRMD6_HUMAN	FERM domain containing 6	20	FERM.					cytoskeleton|mitochondrion|plasma membrane	binding			breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_epithelial(31;0.0163)|Breast(41;0.089)					CAGTGTGTGCATTTTCCTTCC	0.433000													23	21					0	0	1	0	0
RBPJL	11317	broad.mit.edu	37	20	43942191	43942191	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr20:43942191G>C	ENST00000343694.3	+	7	775	c.703G>C	c.(703-705)Gat>Cat	p.D235H	RBPJL_ENST00000372741.3_Missense_Mutation_p.D235H|RBPJL_ENST00000372743.1_Missense_Mutation_p.D235H	NM_014276.2	NP_055091.2	Q9UBG7	RBPJL_HUMAN	recombination signal binding protein for immunoglobulin kappa J region-like	235					signal transduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Myeloproliferative disorder(115;0.0122)				CTCTGTGGAGGATGGGGCCTT	0.597000													7	15					0	0	1	0	0
SIPA1L2	57568	broad.mit.edu	37	1	232615429	232615429	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr1:232615429C>T	ENST00000366630.1	-	6	2387	c.2029G>A	c.(2029-2031)Gaa>Aaa	p.E677K	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.E677K			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	677	Rap-GAP.				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	p.E677K(1)		NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				AACATGAGTTCGTAGTCTTTG	0.458000													5	57					0	0	1	0	0
FCRL3	115352	broad.mit.edu	37	1	157666065	157666065	+	Silent	SNP	C	C	G			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr1:157666065C>G	ENST00000368184.3	-	7	1188	c.897G>C	c.(895-897)ctG>ctC	p.L299L	FCRL3_ENST00000473231.1_5'UTR|FCRL3_ENST00000368186.5_Silent_p.L299L|RP11-367J7.3_ENST00000453692.1_RNA	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	299	Ig-like C2-type 4.					integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					CTCCTTCAATCAGCTGCCCTC	0.517000													7	95					0	0	1	0	0
MYO1C	4641	broad.mit.edu	37	17	1373933	1373933	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr17:1373933G>T	ENST00000359786.5	-	22	2587	c.2263C>A	c.(2263-2265)Ctc>Atc	p.L755I	MYO1C_ENST00000361007.2_Missense_Mutation_p.L720I|MYO1C_ENST00000438665.2_Missense_Mutation_p.L736I|MYO1C_ENST00000545534.2_Missense_Mutation_p.L731I|MYO1C_ENST00000575158.1_Missense_Mutation_p.L720I	NM_001080779.1	NP_001074248.1	O00159	MYO1C_HUMAN	myosin IC	755	IQ 1.				mRNA transport|protein transport|transmembrane transport	basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	17				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		TTCACCCGGAGGAATTTCTGC	0.622000													10	21					0.000219431	0.000222505	1	1	0
CXorf21	80231	broad.mit.edu	37	X	30578057	30578057	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chrX:30578057G>T	ENST00000378962.3	-	3	738	c.416C>A	c.(415-417)tCa>tAa	p.S139*		NM_025159.2	NP_079435.1	Q9HAI6	CX021_HUMAN	chromosome X open reading frame 21	139										kidney(1)|large_intestine(3)|lung(13)|ovary(1)|stomach(1)|urinary_tract(1)	20						TGTTGTCACTGAATTAATGGC	0.433000													36	9					4.23469e-30	4.522e-30	1	1	0
MED1	5469	broad.mit.edu	37	17	37565889	37565889	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr17:37565889C>T	ENST00000300651.6	-	17	2808	c.2585G>A	c.(2584-2586)gGa>gAa	p.G862E	MED1_ENST00000394287.3_Intron	NM_004774.3	NP_004765.2	Q15648	MED1_HUMAN	mediator complex subunit 1	862	Interaction with ESR1.				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		GAAATCTACTCCATCATGAAA	0.388000										HNSCC(31;0.082)			31	223					0	0	1	0	0
AGBL1	123624	broad.mit.edu	37	15	86697725	86697725	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr15:86697725G>C	ENST00000441037.2	+	3	284	c.189G>C	c.(187-189)agG>agC	p.R63S	AGBL1_ENST00000421325.2_Missense_Mutation_p.R63S	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	63					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						TTCTGGCCAGGAAGAACCTAT	0.478000													7	15					0	0	1	0	0
BAZ2B	29994	broad.mit.edu	37	2	160194092	160194092	+	Silent	SNP	C	C	T			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr2:160194092C>T	ENST00000392783.2	-	32	6141	c.5646G>A	c.(5644-5646)cgG>cgA	p.R1882R	BAZ2B_ENST00000392782.1_Silent_p.R1846R|BAZ2B_ENST00000355831.2_Silent_p.R1848R|BAZ2B_ENST00000343439.5_Silent_p.R1782R	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1882					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						TTTCAATGTTCCGCTCCAAAT	0.488000													37	84					0	0	1	0	0
KIF6	221458	broad.mit.edu	37	6	39311516	39311516	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr6:39311516G>C	ENST00000287152.7	-	22	2491	c.2397C>G	c.(2395-2397)atC>atG	p.I799M	KIF6_ENST00000538893.1_Missense_Mutation_p.I743M|KIF6_ENST00000373215.3_Missense_Mutation_p.I782M|KIF6_ENST00000373216.3_Missense_Mutation_p.I782M|KIF6_ENST00000229913.5_Missense_Mutation_p.I250M|KIF6_ENST00000541946.1_Missense_Mutation_p.I250M|KIF6_ENST00000394362.1_Missense_Mutation_p.I233M|KIF6_ENST00000373213.4_Missense_Mutation_p.I638M	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	799					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						GTCTGGCCTTGATGAAGGCGA	0.582000													15	35					0	0	1	0	0
S1PR4	8698	broad.mit.edu	37	19	3179237	3179237	+	Silent	SNP	G	G	A			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr19:3179237G>A	ENST00000246115.3	+	1	502	c.447G>A	c.(445-447)cgG>cgA	p.R149R	S1PR4_ENST00000591346.1_3'UTR	NM_003775.3	NP_003766.1	O95977	S1PR4_HUMAN	sphingosine-1-phosphate receptor 4	149					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity			breast(1)|kidney(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13						CCATGGTGCGGCCGGTGGCCG	0.692000													4	66					0	0	1	0	0
CSPP1	79848	broad.mit.edu	37	8	68071344	68071344	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr8:68071344G>C	ENST00000262210.5	+	19	2526	c.2495G>C	c.(2494-2496)aGa>aCa	p.R832T	CSPP1_ENST00000412460.1_Missense_Mutation_p.R487T|CSPP1_ENST00000521168.1_3'UTR	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	867	Glu-rich.					centrosome|microtubule|spindle				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			TACTGTGAAAGAGACAATTTG	0.353000													8	107					0	0	1	0	0
COG7	91949	broad.mit.edu	37	16	23436072	23436072	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr16:23436072A>T	ENST00000307149.5	-	7	1192	c.1007T>A	c.(1006-1008)cTa>cAa	p.L336Q		NM_153603.3	NP_705831.1	P83436	COG7_HUMAN	component of oligomeric golgi complex 7	336					intracellular protein transport|protein glycosylation|protein localization in Golgi apparatus|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.0401)		ATGTTTACGTAGGTGGGGGAG	0.557000													31	59					0	0	1	0	0
ELOVL5	60481	broad.mit.edu	37	6	53156755	53156755	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr6:53156755C>G	ENST00000542638.1	-	3	512	c.65G>C	c.(64-66)aGa>aCa	p.R22T	ELOVL5_ENST00000304434.6_Missense_Mutation_p.R22T|ELOVL5_ENST00000370918.4_Missense_Mutation_p.R22T|ELOVL5_ENST00000541407.1_Missense_Mutation_p.R22T|ELOVL5_ENST00000486973.1_5'UTR			Q9NYP7	ELOV5_HUMAN	ELOVL fatty acid elongase 5	22					fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, polyunsaturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7	Lung NSC(77;0.116)					TCCTTTTACTCTAGTATCTGa	0.279000													30	26					0	0	1	0	0
SNTG2	54221	broad.mit.edu	37	2	1251141	1251141	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr2:1251141G>A	ENST00000308624.5	+	12	1060	c.931G>A	c.(931-933)Gac>Aac	p.D311N	SNTG2_ENST00000407292.1_Missense_Mutation_p.D184N	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	311	PH.				central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		CCAAGGAGCTGACTCCTCTCA	0.502000													11	22					0	0	1	0	0
CAPN2	824	broad.mit.edu	37	1	223958200	223958200	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr1:223958200G>A	ENST00000295006.5	+	18	2185	c.1876G>A	c.(1876-1878)Gaa>Aaa	p.E626K	CAPN2_ENST00000474026.1_3'UTR|CAPN2_ENST00000433674.2_Missense_Mutation_p.E548K	NM_001748.4	NP_001739.2	P17655	CAN2_HUMAN	calpain 2, (m/II) large subunit	626	Domain IV.|EF-hand 2.				proteolysis	cytoplasm|plasma membrane				breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|stomach(3)	29				GBM - Glioblastoma multiforme(131;0.109)		GAATTCCTATGAAATGCGGAA	0.393000													4	37					0	0	1	0	0
MTHFS	10588	broad.mit.edu	37	15	80181621	80181621	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr15:80181621C>G	ENST00000258874.3	-	2	253	c.193G>C	c.(193-195)Gaa>Caa	p.E65Q	MTHFS_ENST00000559722.1_5'UTR|ST20-MTHFS_ENST00000494999.1_5'UTR|ST20-MTHFS_ENST00000479961.1_Missense_Mutation_p.E41Q	NM_006441.3	NP_006432.1	P49914	MTHFS_HUMAN	5,10-methenyltetrahydrofolate synthetase (5-formyltetrahydrofolate cyclo-ligase)	65					folic acid-containing compound biosynthetic process|formate metabolic process|tetrahydrofolate metabolic process	cytosol|Golgi apparatus|plasma membrane	5-formyltetrahydrofolate cyclo-ligase activity|ATP binding|folic acid binding			endometrium(3)|large_intestine(1)|liver(1)	5				all cancers(203;0.00467)		ATGATCTCTTCTGTCTCAATT	0.408000													30	45					0	0	1	0	0
C19orf26	255057	broad.mit.edu	37	19	1233530	1233530	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr19:1233530T>G	ENST00000590083.1	-	8	1166	c.874A>C	c.(874-876)Acc>Ccc	p.T292P	C19orf26_ENST00000215376.6_Missense_Mutation_p.T286P|C19orf26_ENST00000382477.2_Missense_Mutation_p.T312P			Q8N350	DOS_HUMAN	chromosome 19 open reading frame 26	312						integral to membrane		p.T286P(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGCAGGCGGGTGAGGAACTGC	0.697000										HNSCC(14;0.022)			4	9					0	0	1	0	0
CCDC33	80125	broad.mit.edu	37	15	74536424	74536424	+	Silent	SNP	C	C	T			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr15:74536424C>T	ENST00000321288.5	+	4	729	c.729C>T	c.(727-729)acC>acT	p.T243T	CCDC33_ENST00000398814.3_Silent_p.T40T			Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33	243	C2.						protein binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						TCATGGTCACCCTCCATGGGG	0.607000													20	31					0	0	1	0	0
KRTAP27-1	643812	broad.mit.edu	37	21	31709900	31709900	+	Silent	SNP	G	G	T			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr21:31709900G>T	ENST00000382835.2	-	1	112	c.87C>A	c.(85-87)acC>acA	p.T29T		NM_001077711.1	NP_001071179.1	Q3LI81	KR271_HUMAN	keratin associated protein 27-1	29						intermediate filament				endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(1)	18						TGTCTTCAAAGGTTATAGGAT	0.468000													44	99					7.05121e-23	7.46356e-23	1	1	0
DIS3L	115752	broad.mit.edu	37	15	66601162	66601162	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr15:66601162G>T	ENST00000319194.5	+	4	550	c.289G>T	c.(289-291)Gta>Tta	p.V97L	DIS3L_ENST00000441424.2_Missense_Mutation_p.V46L|DIS3L_ENST00000319212.4_Missense_Mutation_p.V180L	NM_133375.3	NP_588616.1	Q8TF46	DI3L1_HUMAN	DIS3 mitotic control homolog (S. cerevisiae)-like	180					rRNA catabolic process	cytoplasm|exosome (RNase complex)	exonuclease activity|protein binding|ribonuclease activity|RNA binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						AACAGAAGGAGTATTCGTGAT	0.398000													33	58					1.836e-18	1.92647e-18	1	1	0
FCGBP	8857	broad.mit.edu	37	19	40363228	40363228	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr19:40363228C>T	ENST00000221347.6	-	32	14849	c.14842G>A	c.(14842-14844)Gag>Aag	p.E4948K		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4948	VWFD 12.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TTTCGGCCCTCGGCGGTCACC	0.662000													10	13					0	0	1	0	0
CORO1A	11151	broad.mit.edu	37	16	30199516	30199516	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr16:30199516C>G	ENST00000219150.5	+	9	1316	c.1011C>G	c.(1009-1011)ttC>ttG	p.F337L	CORO1A_ENST00000570045.1_Missense_Mutation_p.F337L|CORO1A_ENST00000565497.1_Missense_Mutation_p.F337L	NM_001193333.2|NM_007074.3	NP_001180262.1|NP_009005.1	P31146	COR1A_HUMAN	coronin, actin binding protein, 1A	337					cell-substrate adhesion|innate immune response|leukocyte chemotaxis|negative regulation of actin nucleation|phagolysosome assembly|positive chemotaxis|regulation of cell shape|uropod organization	actin filament|cortical actin cytoskeleton|lamellipodium|phagocytic cup|phagocytic vesicle membrane	actin filament binding|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein homodimerization activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	9						CCCACAGGTTCTACAAGCTGC	0.662000													3	39					0	0	1	0	0
FOXD4L1	200350	broad.mit.edu	37	2	114257406	114257406	+	Silent	SNP	C	C	T			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr2:114257406C>T	ENST00000306507.5	+	1	746	c.573C>T	c.(571-573)ttC>ttT	p.F191F		NM_012184.4	NP_036316.1	Q9NU39	FX4L1_HUMAN	forkhead box D4-like 1	191					axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(2)	26						AGGACATGTTCGACAATGGCA	0.652000													13	180					0	0	1	0	0
DHPS	1725	broad.mit.edu	37	19	12790281	12790281	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr19:12790281C>T	ENST00000210060.7	-	5	803	c.668G>A	c.(667-669)tGg>tAg	p.W223*	DHPS_ENST00000351660.5_Nonsense_Mutation_p.W223*|DHPS_ENST00000594424.1_Nonsense_Mutation_p.W181*	NM_001930.3	NP_001921.1	P49366	DHYS_HUMAN	deoxyhypusine synthase	223					peptidyl-lysine modification to hypusine|positive regulation of cell proliferation|post-translational protein modification|spermidine catabolic process to deoxyhypusine, using deoxyhypusine synthase|translation	cytosol	deoxyhypusine synthase activity|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)	8					Sulfadoxine(DB01299)	CTTCTGGGCCCAGTAATACAC	0.512000													72	98					0	0	1	0	0
SLC10A6	345274	broad.mit.edu	37	4	87754557	87754557	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr4:87754557G>A	ENST00000273905.6	-	2	545	c.398C>T	c.(397-399)tCc>tTc	p.S133F	SLC10A6_ENST00000505535.1_5'UTR	NM_197965.2	NP_932069.1	Q3KNW5	SOAT_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 6	133						integral to membrane|plasma membrane	bile acid:sodium symporter activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	9		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.00099)		GGCCACGGTGGAACAGGTTGT	0.443000													19	61					0	0	1	0	0
BSN	8927	broad.mit.edu	37	3	49699342	49699342	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr3:49699342C>G	ENST00000296452.4	+	6	10178	c.10064C>G	c.(10063-10065)tCa>tGa	p.S3355*		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	3355					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		GCCATCTCCTCAAAGCGCAGC	0.572000													3	29					0	0	1	0	0
SLC39A12	221074	broad.mit.edu	37	10	18276458	18276458	+	Silent	SNP	C	C	T			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr10:18276458C>T	ENST00000377369.2	+	7	1420	c.1147C>T	c.(1147-1149)Ctg>Ttg	p.L383L	SLC39A12_ENST00000377374.4_Silent_p.L383L|SLC39A12_ENST00000539911.1_Silent_p.L249L|SLC39A12_ENST00000377371.3_Silent_p.L383L	NM_001145195.1	NP_001138667.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	383					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						GGGCTCCATGCTGGGGACAGC	0.557000													22	40					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13885256	13885256	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr5:13885256G>A	ENST00000265104.4	-	19	2929	c.2825C>T	c.(2824-2826)aCg>aTg	p.T942M	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	942	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CTTTTTCCTCGTGACTGTCGT	0.423000									Kartagener syndrome				27	42					0	0	1	0	0
CRADD	8738	broad.mit.edu	37	12	94244018	94244018	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr12:94244018C>T	ENST00000542893.2	+	3	889	c.571C>T	c.(571-573)Ccc>Tcc	p.P191S	CRADD_ENST00000548483.1_Intron|CRADD_ENST00000332896.3_Missense_Mutation_p.P191S|CRADD_ENST00000541813.1_Intron|CRADD_ENST00000548330.1_3'UTR			P78560	CRADD_HUMAN	CASP2 and RIPK1 domain containing adaptor with death domain	191					apoptosis|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|signal transduction	intracellular	death domain binding|protease binding|protein binding, bridging			endometrium(1)|large_intestine(5)|lung(1)|ovary(1)	8						GGAGGTGGACCCCTCGCTGCT	0.632000													11	26					0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38888469	38888469	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr3:38888469C>G	ENST00000302328.3	-	26	5290	c.5092G>C	c.(5092-5094)Gat>Cat	p.D1698H	SCN11A_ENST00000456224.3_Missense_Mutation_p.D1660H|SCN11A_ENST00000450244.1_Missense_Mutation_p.D1698H	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1698					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	TCTAGGCCATCAGAGCCACCG	0.453000													4	74					0	0	1	0	0
BRPF3	27154	broad.mit.edu	37	6	36193116	36193116	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr6:36193116G>C	ENST00000357641.6	+	11	3507	c.3254G>C	c.(3253-3255)cGa>cCa	p.R1085P	BRPF3_ENST00000534400.1_Intron|BRPF3_ENST00000443324.2_Missense_Mutation_p.R751P|BRPF3_ENST00000339717.7_Missense_Mutation_p.R815P|BRPF3_ENST00000543502.1_Missense_Mutation_p.R815P|BRPF3_ENST00000534694.1_Missense_Mutation_p.R751P	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	1085	PWWP.				histone H3 acetylation|platelet activation|platelet degranulation	cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						GCCAAGTGCCGAGGCTACCCC	0.642000													4	26					0	0	1	0	0
VPS13C	54832	broad.mit.edu	37	15	62258317	62258317	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr15:62258317G>A	ENST00000261517.5	-	30	3089	c.3016C>T	c.(3016-3018)Caa>Taa	p.Q1006*	VPS13C_ENST00000395896.4_Nonsense_Mutation_p.Q1006*|VPS13C_ENST00000249837.3_Nonsense_Mutation_p.Q963*|VPS13C_ENST00000395898.3_Nonsense_Mutation_p.Q963*	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	1006					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						AAAGCAGTTTGAAAACTAGGT	0.308000													14	22					0	0	1	0	0
NUP93	9688	broad.mit.edu	37	16	56875739	56875739	+	Silent	SNP	C	C	T			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr16:56875739C>T	ENST00000564887.1	+	19	2603	c.1974C>T	c.(1972-1974)cgC>cgT	p.R658R	NUP93_ENST00000569842.1_Silent_p.R781R|NUP93_ENST00000542526.1_Silent_p.R658R|NUP93_ENST00000308159.5_Silent_p.R781R	NM_001242795.1	NP_001229724.1	Q8N1F7	NUP93_HUMAN	nucleoporin 93kDa	781					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						TCGAGGACCGCGACTCTGTAA	0.512000													21	10					0	0	1	0	0
KIAA1109	84162	broad.mit.edu	37	4	123160874	123160874	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr4:123160874C>G	ENST00000264501.4	+	29	4410	c.4037C>G	c.(4036-4038)tCt>tGt	p.S1346C	KIAA1109_ENST00000388738.3_Missense_Mutation_p.S1346C|KIAA1109_ENST00000495260.1_3'UTR|KIAA1109_ENST00000455637.1_Missense_Mutation_p.S1346C			Q2LD37	K1109_HUMAN	KIAA1109	1346					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						AGTGATGTCTCTCGAAGTGAT	0.433000													6	129					0	0	1	0	0
SLC6A1	6529	broad.mit.edu	37	3	11072889	11072889	+	Silent	SNP	T	T	C			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr3:11072889T>C	ENST00000287766.4	+	13	1771	c.1350T>C	c.(1348-1350)ttT>ttC	p.F450F	SLC6A1_ENST00000536032.1_Silent_p.F272F	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 1	450					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Cocaine(DB00907)|Tiagabine(DB00906)	TCAAACTCTTTGACTACTACT	0.498000													25	95					0	0	1	0	0
ARFGEF2	10564	broad.mit.edu	37	20	47633821	47633821	+	Silent	SNP	T	T	C			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr20:47633821T>C	ENST00000371917.4	+	32	4351	c.4351T>C	c.(4351-4353)Tta>Cta	p.L1451L		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	1451					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			TACAAATTGCTTAGAAAACTT	0.368000													23	32					0	0	1	0	0
FAM21C	253725	broad.mit.edu	37	10	46250521	46250521	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr10:46250521G>A	ENST00000336378.4	+	15	1496	c.1378G>A	c.(1378-1380)Gac>Aac	p.D460N	FAM21C_ENST00000359860.4_Missense_Mutation_p.D404N|FAM21C_ENST00000540872.1_Missense_Mutation_p.D460N|FAM21C_ENST00000374362.2_Missense_Mutation_p.D460N|FAM21C_ENST00000537517.1_Missense_Mutation_p.D436N	NM_015262.2	NP_056077.2	A8K5W5	A8K5W5_HUMAN	family with sequence similarity 21, member C	460										central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						tgatgatgatgacgaCTTTTT	0.498000													10	13					0	0	1	0	0
PLIN3	10226	broad.mit.edu	37	19	4859609	4859609	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr19:4859609G>A	ENST00000221957.4	-	4	517	c.341C>T	c.(340-342)aCg>aTg	p.T114M	PLIN3_ENST00000585479.1_Missense_Mutation_p.T114M|PLIN3_ENST00000592528.1_Missense_Mutation_p.T114M	NM_001164189.1|NM_001164194.1|NM_005817.4	NP_001157661.1|NP_001157666.1|NP_005808.3	O60664	PLIN3_HUMAN	perilipin 3	114					vesicle-mediated transport	endosome membrane|Golgi apparatus|lipid particle	protein binding			cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	9					Galsulfase(DB01279)|Idursulfase(DB01271)	TACCTTCTCCGTGGGCTGCTG	0.572000													21	29					0	0	1	0	0
CLSTN1	22883	broad.mit.edu	37	1	9794124	9794124	+	Silent	SNP	C	C	G			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr1:9794124C>G	ENST00000377298.4	-	15	2979	c.2187G>C	c.(2185-2187)ctG>ctC	p.L729L	CLSTN1_ENST00000377288.3_Silent_p.L710L|CLSTN1_ENST00000361311.4_Silent_p.L719L	NM_001009566.1	NP_001009566.1	O94985	CSTN1_HUMAN	calsyntenin 1	729					homophilic cell adhesion	cell junction|cell projection|endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus|postsynaptic membrane	calcium ion binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	36	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		GCTCGTGGTTCAGCTCCTCTC	0.572000													18	30					0	0	1	0	0
DCP1B	196513	broad.mit.edu	37	12	2061703	2061703	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr12:2061703G>C	ENST00000280665.6	-	7	1482	c.1403C>G	c.(1402-1404)tCt>tGt	p.S468C	DCP1B_ENST00000397173.4_Missense_Mutation_p.S366C|DCP1B_ENST00000540622.1_Missense_Mutation_p.S342C	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	decapping mRNA 1B	468					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	hydrolase activity|protein binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			TGGCCGGTTAGAGGCATGCAG	0.537000													6	67					0	0	1	0	0
RASA1	5921	broad.mit.edu	37	5	86672284	86672284	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr5:86672284A>G	ENST00000456692.2	+	16	1670	c.1555A>G	c.(1555-1557)Ata>Gta	p.I519V	CTC-428H11.2_ENST00000607486.1_RNA|RASA1_ENST00000512763.1_Missense_Mutation_p.I529V|RASA1_ENST00000274376.6_Missense_Mutation_p.I696V|RASA1_ENST00000506290.1_Missense_Mutation_p.I530V	NM_022650.2	NP_072179.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	696	PH.				cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis	cytosol|intrinsic to internal side of plasma membrane	glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding			NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		CAGCTCCCATATACCATTAAA	0.423000													6	24					0	0	1	0	0
MYO5C	55930	broad.mit.edu	37	15	52515861	52515861	+	Silent	SNP	C	C	T			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr15:52515861C>T	ENST00000261839.7	-	29	3668	c.3507G>A	c.(3505-3507)ttG>ttA	p.L1169L		NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	1169						myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		CTTTGAAGTTCAAAGCTTCAA	0.398000													19	39					0	0	1	0	0
DOPEY1	23033	broad.mit.edu	37	6	83863897	83863897	+	Splice_Site	SNP	A	A	T			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr6:83863897A>T	ENST00000349129.2	+	33	6649		c.e33-1		DOPEY1_ENST00000484282.1_Splice_Site|DOPEY1_ENST00000369739.3_Splice_Site|DOPEY1_ENST00000237163.5_Splice_Site	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1						protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		TATCTCTTTCAGTTGGAGAGC	0.363000													23	39					0	0	1	0	0
THEM6	51337	broad.mit.edu	37	8	143816795	143816795	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr8:143816795G>C	ENST00000336138.3	+	2	709	c.565G>C	c.(565-567)Gag>Cag	p.E189Q		NM_016647.2	NP_057731.1	Q8WUY1	CH055_HUMAN	thioesterase superfamily member 6	189						extracellular region											CTCCTACAACGAGGCCAGCAG	0.632000													2	6					0	0	1	0	0
MUC13	56667	broad.mit.edu	37	3	124646819	124646819	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr3:124646819G>C	ENST00000311075.3	-	2	109	c.71C>G	c.(70-72)tCa>tGa	p.S24*	MUC13_ENST00000497378.1_5'UTR	NM_033049.3	NP_149038.3	Q9H3R2	MUC13_HUMAN	mucin 13, cell surface associated	24						extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1)	18						AGCATCAGCTGAGTTGCCTTG	0.428000													5	110					0	0	1	0	0
ZNF251	90987	broad.mit.edu	37	8	145947498	145947498	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr8:145947498C>T	ENST00000292562.7	-	5	1822	c.1547G>A	c.(1546-1548)cGt>cAt	p.R516H	ZNF251_ENST00000524394.1_Intron	NM_138367.1	NP_612376.1	Q9BRH9	ZN251_HUMAN	zinc finger protein 251	516					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|kidney(1)|large_intestine(5)|lung(9)|stomach(1)	17	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)		TCTGCACTTACGAGTCTCTCC	0.532000													28	62					0	0	1	0	0
CDK18	5129	broad.mit.edu	37	1	205499409	205499409	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr1:205499409C>T	ENST00000360066.2	+	14	1545	c.1244C>T	c.(1243-1245)tCa>tTa	p.S415L	CDK18_ENST00000429964.2_Missense_Mutation_p.S415L|CDK18_ENST00000509056.1_3'UTR|CDK18_ENST00000506784.1_Missense_Mutation_p.S445L	NM_002596.3|NM_212502.2|NM_212503.2	NP_002587.2|NP_997667.1|NP_997668.1	Q07002	CDK18_HUMAN	cyclin-dependent kinase 18	413	Protein kinase.						ATP binding|cyclin-dependent protein kinase activity|protein binding|signal transducer activity			breast(2)|endometrium(2)|large_intestine(2)|lung(10)|stomach(2)|urinary_tract(1)	19						AGTCGCATGTCAGCAGAGGCT	0.622000													5	70					0	0	1	0	0
ENPP7	339221	broad.mit.edu	37	17	77710865	77710865	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr17:77710865G>A	ENST00000328313.5	+	4	1273	c.1052G>A	c.(1051-1053)gGg>gAg	p.G351E		NM_178543.3	NP_848638.2	Q6UWV6	ENPP7_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 7	351					negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			TTCAACAATGGGGAGCACGGC	0.602000													28	6					0	0	1	0	0
PDSS1	23590	broad.mit.edu	37	10	27035305	27035305	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr10:27035305G>A	ENST00000376215.5	+	12	1204	c.1151G>A	c.(1150-1152)tGc>tAc	p.C384Y	PDSS1_ENST00000376203.5_3'UTR|PDSS1_ENST00000470978.1_3'UTR	NM_014317.3	NP_055132.2	Q5T2R2	DPS1_HUMAN	prenyl (decaprenyl) diphosphate synthase, subunit 1	384					isoprenoid biosynthetic process|ubiquinone biosynthetic process	mitochondrion	metal ion binding|protein heterodimerization activity			autonomic_ganglia(1)|endometrium(1)|kidney(7)|large_intestine(6)|lung(5)|prostate(1)	21						CAGCAGTACTGCCATGAAGCA	0.423000													6	49					0	0	1	0	0
COG3	83548	broad.mit.edu	37	13	46092895	46092895	+	Splice_Site	SNP	A	A	G			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr13:46092895A>G	ENST00000349995.5	+	18	2042		c.e18-1			NM_031431.3	NP_113619.2	Q96JB2	COG3_HUMAN	component of oligomeric golgi complex 3						ER to Golgi vesicle-mediated transport|intra-Golgi vesicle-mediated transport|intracellular protein transport|protein glycosylation|protein localization to organelle|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	cis-Golgi network|Golgi cisterna membrane|Golgi transport complex	protein binding|protein transporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|stomach(1)	24		Lung NSC(96;0.000145)|Breast(56;0.000596)|Prostate(109;0.00438)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000124)		TTTGTTTCACAGATGCAGCAT	0.398000													6	56					0	0	1	0	0
FZD9	8326	broad.mit.edu	37	7	72849813	72849813	+	Silent	SNP	A	A	G			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr7:72849813A>G	ENST00000344575.3	+	1	1705	c.1476A>G	c.(1474-1476)ggA>ggG	p.G492G		NM_003508.2	NP_003499.1	O00144	FZD9_HUMAN	frizzled family receptor 9	492					B cell differentiation|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|neuroblast proliferation|vasculature development	cell surface|filopodium membrane|integral to membrane|perinuclear region of cytoplasm	G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|skin(1)	14		Lung NSC(55;0.0659)|all_lung(88;0.152)				CGGGGCCCGGAGGCCGGAGGG	0.652000													4	40					0	0	1	0	0
SORBS2	8470	broad.mit.edu	37	4	186567862	186567862	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr4:186567862T>C	ENST00000431808.1	-	11	1207	c.644A>G	c.(643-645)tAt>tGt	p.Y215C	SORBS2_ENST00000498125.1_5'UTR|SORBS2_ENST00000418609.1_Missense_Mutation_p.Y119C|SORBS2_ENST00000448662.2_Missense_Mutation_p.Y284C|SORBS2_ENST00000284776.7_Missense_Mutation_p.Y215C|SORBS2_ENST00000449407.2_Missense_Mutation_p.Y286C|SORBS2_ENST00000393528.3_Missense_Mutation_p.Y261C|SORBS2_ENST00000355634.5_Missense_Mutation_p.Y315C|SORBS2_ENST00000437304.2_Missense_Mutation_p.Y394C|SORBS2_ENST00000319471.9_Missense_Mutation_p.Y301C			O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	215						actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		GCCAGGTTCATATTCAAAAAT	0.428000													26	12					0	0	1	0	0
KRT26	353288	broad.mit.edu	37	17	38928008	38928008	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr17:38928008C>G	ENST00000335552.4	-	1	406	c.358G>C	c.(358-360)Gag>Cag	p.E120Q		NM_181539.4	NP_853517.2	Q7Z3Y9	K1C26_HUMAN	keratin 26	120	Linker 1.|Rod.					intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(5)	16		Breast(137;0.00526)				TCACATTTCTCGTACCAGCCC	0.498000													10	104					0	0	1	0	0
RALGAPA1	253959	broad.mit.edu	37	14	36103865	36103865	+	Silent	SNP	A	A	G			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr14:36103865A>G	ENST00000258840.6	-	33	4923	c.4533T>C	c.(4531-4533)ttT>ttC	p.F1511F	RALGAPA1_ENST00000307138.6_Silent_p.F1464F|RALGAPA1_ENST00000382366.3_Silent_p.F1477F|RALGAPA1_ENST00000389698.3_Silent_p.F1464F			Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	1464	Minimal domain that binds to TCF3/E12 (By similarity).				activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CCAAATGCATAAAAGGATCAT	0.423000													16	35					0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103427750	103427750	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr1:103427750T>A	ENST00000358392.2	-	40	3449	c.3132A>T	c.(3130-3132)agA>agT	p.R1044S	COL11A1_ENST00000370096.3_Missense_Mutation_p.R1032S|COL11A1_ENST00000512756.1_Missense_Mutation_p.R916S|COL11A1_ENST00000353414.4_Missense_Mutation_p.R993S	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1032	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CAGGAAGACCTCTTTCCCCTG	0.388000													26	7					0	0	1	0	0
OR10G8	219869	broad.mit.edu	37	11	123900988	123900988	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr11:123900988T>C	ENST00000431524.1	+	1	692	c.659T>C	c.(658-660)aTc>aCc	p.I220T		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	220					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		TATGTGTCCATCGTCTGTTCC	0.542000													29	11					0	0	1	0	0
CHD6	84181	broad.mit.edu	37	20	40050616	40050616	+	Silent	SNP	G	G	C			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr20:40050616G>C	ENST00000373233.3	-	31	4836	c.4659C>G	c.(4657-4659)ctC>ctG	p.L1553L		NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1553					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				GAGGGCACTTGAGCACTTGCT	0.562000													14	39					0	0	1	0	0
TMEM72	643236	broad.mit.edu	37	10	45430193	45430193	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr10:45430193G>C	ENST00000544540.1	+	4	569	c.85G>C	c.(85-87)Gag>Cag	p.E29Q	TMEM72-AS1_ENST00000450287.2_RNA			A0PK05	TMM72_HUMAN	transmembrane protein 72	147						integral to membrane				breast(2)|kidney(1)|large_intestine(2)|lung(10)	15						GGCCTCCCCAGAGCAGTACAC	0.612000													7	83					0	0	1	0	0
KSR2	283455	broad.mit.edu	37	12	117968797	117968797	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr12:117968797G>A	ENST00000425217.1	-	12	1718	c.1664C>T	c.(1663-1665)aCg>aTg	p.T555M	KSR2_ENST00000545002.1_5'UTR|KSR2_ENST00000339824.5_Missense_Mutation_p.T584M|KSR2_ENST00000302438.5_Missense_Mutation_p.T281M	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	584					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CCGGGTCGGCGTCTCCGGCAC	0.562000													45	72					0	0	1	0	0
NLRP7	199713	broad.mit.edu	37	19	55451377	55451377	+	Silent	SNP	G	G	A			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr19:55451377G>A	ENST00000446217.1	-	6	1296	c.894C>T	c.(892-894)tgC>tgT	p.C298C	NLRP7_ENST00000448121.2_Silent_p.C270C|NLRP7_ENST00000340844.2_Silent_p.C270C|NLRP7_ENST00000328092.5_Silent_p.C270C|NLRP7_ENST00000592784.1_Silent_p.C270C|NLRP7_ENST00000590030.1_Silent_p.C270C|NLRP7_ENST00000588756.1_Silent_p.C270C			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	270	NACHT.						ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		CCCAGTCCCCGCAGATGTCCT	0.592000													28	38					0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152398055	152398055	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr2:152398055C>T	ENST00000427231.2	-	136	20790	c.20588G>A	c.(20587-20589)aGa>aAa	p.R6863K	NEB_ENST00000603639.1_Missense_Mutation_p.R6863K|NEB_ENST00000172853.10_Missense_Mutation_p.R5162K|NEB_ENST00000604864.1_Missense_Mutation_p.R6863K|NEB_ENST00000397345.3_Missense_Mutation_p.R6863K|NEB_ENST00000409198.1_Missense_Mutation_p.R5162K	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	5162					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GCCTGCAGCTCTGTAGACCAG	0.433000													7	90					0	0	1	0	0
TRIM36	55521	broad.mit.edu	37	5	114469606	114469606	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr5:114469606G>C	ENST00000513154.1	-	8	1775	c.1449C>G	c.(1447-1449)atC>atG	p.I483M	TRIM36_ENST00000514154.1_Missense_Mutation_p.I340M|TRIM36_ENST00000282369.3_Missense_Mutation_p.I495M			Q9NQ86	TRI36_HUMAN	tripartite motif containing 36	495	Fibronectin type-III.					acrosomal vesicle|cytoskeleton	ligase activity|zinc ion binding			breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		AAGGACTACAGATTGAACCCT	0.388000													7	38					0	0	1	0	0
FOXG1	2290	broad.mit.edu	37	14	29237831	29237831	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr14:29237831C>T	ENST00000382535.3	+	2	1715	c.1346C>T	c.(1345-1347)tCg>tTg	p.S449L	FOXG1_ENST00000313071.4_Missense_Mutation_p.S449L			P55316	FOXG1_HUMAN	forkhead box G1	449				QAPST -> AGPPRP (in Ref. 1; CAA52240 and 2; CAA55038).|ST -> RP (in Ref. 1; CAA52239).	axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		CAGGCCCCCTCGACCCTGCCC	0.582000													22	37					0	0	1	0	0
PCDHB6	56130	broad.mit.edu	37	5	140531735	140531735	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr5:140531735G>A	ENST00000231136.1	+	1	1897	c.1897G>A	c.(1897-1899)Gca>Aca	p.A633T	PCDHB6_ENST00000543635.1_Missense_Mutation_p.A497T	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN		633	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGAGCGAGACGCAGCCAAGCA	0.677000													9	26					0	0	1	0	0
TMPRSS3	64699	broad.mit.edu	37	21	43795836	43795836	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr21:43795836C>T	ENST00000291532.3	-	12	2291	c.1336G>A	c.(1336-1338)Gag>Aag	p.E446K	TMPRSS3_ENST00000398405.1_Missense_Mutation_p.E443K|TMPRSS3_ENST00000433957.2_Missense_Mutation_p.E445K|TMPRSS3_ENST00000380399.1_Missense_Mutation_p.E530K|TMPRSS3_ENST00000474596.1_5'UTR	NM_032404.2	NP_115780.1	P57727	TMPS3_HUMAN	transmembrane protease, serine 3	446	Peptidase S1.				cellular sodium ion homeostasis|proteolysis	endoplasmic reticulum membrane|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity|sodium channel regulator activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1)	13						TCCATCTGCTCGTGGATCCAG	0.582000													37	78					0	0	1	0	0
OR13A1	79290	broad.mit.edu	37	10	45799279	45799279	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr10:45799279C>T	ENST00000553795.1	-	4	900	c.592G>A	c.(592-594)Gag>Aag	p.E198K	OR13A1_ENST00000536058.1_Missense_Mutation_p.E198K|OR13A1_ENST00000374401.2_Missense_Mutation_p.E198K	NM_001004297.2	NP_001004297.2	Q8NGR1	O13A1_HUMAN	olfactory receptor, family 13, subfamily A, member 1	198					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)|urinary_tract(1)	19						GGAGGGACCTCGCAGAAGAAA	0.567000													17	23					0	0	1	0	0
POLR1A	25885	broad.mit.edu	37	2	86302279	86302279	+	Silent	SNP	G	G	A			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr2:86302279G>A	ENST00000263857.6	-	12	1863	c.1485C>T	c.(1483-1485)tcC>tcT	p.S495S	POLR1A_ENST00000409681.1_Silent_p.S495S			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	495					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						TGATGACCATGGAGGCTCCTG	0.602000													20	6					0	0	1	0	0
NRDE2	55051	broad.mit.edu	37	14	90783141	90783141	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr14:90783141G>C	ENST00000354366.3	-	3	420	c.188C>G	c.(187-189)tCa>tGa	p.S63*	NRDE2_ENST00000357904.3_Intron|NRDE2_ENST00000557106.1_5'UTR	NM_017970.3	NP_060440.2			NRDE-2, necessary for RNA interference, domain containing																		TGAAGACTCTGATTTCAGATG	0.284000													11	50					0	0	1	0	0
KLKB1	3818	broad.mit.edu	37	4	187173205	187173205	+	Silent	SNP	A	A	G			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr4:187173205A>G	ENST00000264690.6	+	11	1366	c.1179A>G	c.(1177-1179)ggA>ggG	p.G393G	KLKB1_ENST00000513864.1_Silent_p.G393G	NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN	kallikrein B, plasma (Fletcher factor) 1	393	Peptidase S1.				blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		GCATTGTTGGAGGAACAAACT	0.507000													25	15					0	0	1	0	0
CC2D1A	54862	broad.mit.edu	37	19	14038078	14038078	+	Splice_Site	SNP	G	G	T			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr19:14038078G>T	ENST00000318003.7	+	22	2557	c.2316_splice	c.e22+1	p.E772_splice	CC2D1A_ENST00000589606.1_Splice_Site_p.E772_splice	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	772					positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			AGATCCTTGAGGTGAGAGGTG	0.547000													3	48					6.4e-05	6.5262e-05	1	1	0
DLL1	28514	broad.mit.edu	37	6	170592437	170592437	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr6:170592437C>T	ENST00000366756.3	-	9	2263	c.1930G>A	c.(1930-1932)Gtg>Atg	p.V644M		NM_005618.3	NP_005609.3	O00548	DLL1_HUMAN	delta-like 1 (Drosophila)	644					cell communication|cell fate determination|hemopoiesis|Notch receptor processing|Notch signaling pathway|regulation of cell adhesion	extracellular region|integral to plasma membrane	calcium ion binding|Notch binding			NS(2)|breast(1)|endometrium(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	33		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)		AGGTCCTGCACGAGGTTATAG	0.627000													28	57					0	0	1	0	0
KLF10	7071	broad.mit.edu	37	8	103664280	103664280	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr8:103664280G>C	ENST00000395884.3	-	3	1149	c.247C>G	c.(247-249)Cca>Gca	p.P83A	KLF10_ENST00000285407.6_Missense_Mutation_p.P94A	NM_001032282.2	NP_001027453.1	Q13118	KLF10_HUMAN	Kruppel-like factor 10	94					cell proliferation|cell-cell signaling|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|skeletal system development|transforming growth factor beta receptor signaling pathway	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(3)	18	all_epithelial(15;5.63e-07)|Lung NSC(17;8.18e-05)|all_lung(17;0.000169)		OV - Ovarian serous cystadenocarcinoma(57;0.000112)|STAD - Stomach adenocarcinoma(118;0.0826)			CTGTAAGGTGGAGTCAAACAC	0.348000											OREG0018913	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	42	32					0	0	1	0	0
MSANTD4	84437	broad.mit.edu	37	11	105880399	105880399	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr11:105880399C>G	ENST00000301919.4	-	3	2316	c.901G>C	c.(901-903)Gag>Cag	p.E301Q	MSANTD4_ENST00000529805.1_5'UTR	NM_032424.1	NP_115800.1	Q8NCY6	K1826_HUMAN	Myb/SANT-like DNA-binding domain containing 4 with coiled-coils	301						nucleus											CGTTCTCGCTCAAGTTTTAAC	0.408000													6	74					0	0	1	0	0
MED1	5469	broad.mit.edu	37	17	37565028	37565028	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr17:37565028G>A	ENST00000300651.6	-	17	3669	c.3446C>T	c.(3445-3447)tCt>tTt	p.S1149F	MED1_ENST00000394287.3_Intron	NM_004774.3	NP_004765.2	Q15648	MED1_HUMAN	mediator complex subunit 1	1149	Ser-rich.				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		CTTCCCCCCAGACTGGGATGA	0.478000										HNSCC(31;0.082)			9	74					0	0	1	0	0
TRPM7	54822	broad.mit.edu	37	15	50940979	50940979	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr15:50940979C>G	ENST00000313478.7	-	4	507	c.226G>C	c.(226-228)Gaa>Caa	p.E76Q	TRPM7_ENST00000560955.1_Missense_Mutation_p.E76Q	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7	76					cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		GACCATTCTTCTATTGCCTGA	0.413000													36	95					0	0	1	0	0
FRYL	285527	broad.mit.edu	37	4	48581067	48581067	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr4:48581067G>C	ENST00000358350.4	-	23	3055	c.2451C>G	c.(2449-2451)caC>caG	p.H817Q	FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000503238.1_Missense_Mutation_p.H817Q|FRYL_ENST00000507711.1_Missense_Mutation_p.H817Q|FRYL_ENST00000537810.1_Missense_Mutation_p.H817Q	NM_015030.1	NP_055845.1	O94915	FRYL_HUMAN	FRY-like	817					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						CTGTAGAGCAGTGTTTAGGAA	0.393000													40	62					0	0	1	0	0
PTPRJ	5795	broad.mit.edu	37	11	48166647	48166647	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr11:48166647C>G	ENST00000418331.2	+	14	3234	c.2882C>G	c.(2881-2883)tCa>tGa	p.S961*		NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	961					contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						AGTCGCTACTCAGATGCTGTT	0.537000													9	107					0	0	1	0	0
ATAD1	84896	broad.mit.edu	37	10	89536107	89536107	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr10:89536107C>T	ENST00000308448.7	-	6	1039	c.661G>A	c.(661-663)Gat>Aat	p.D221N	ATAD1_ENST00000328142.3_Missense_Mutation_p.D221N|ATAD1_ENST00000541004.1_Missense_Mutation_p.D221N|ATAD1_ENST00000400215.3_Missense_Mutation_p.D163N	NM_032810.2	NP_116199.2	Q8NBU5	ATAD1_HUMAN	ATPase family, AAA domain containing 1	221						peroxisome	ATP binding|nucleoside-triphosphatase activity			kidney(1)|large_intestine(4)|lung(4)|ovary(1)	10		all_cancers(4;6.78e-12)|Prostate(4;3.56e-12)|all_epithelial(4;5.58e-09)|Melanoma(5;0.0273)|Breast(4;0.0424)|all_hematologic(4;0.0846)|Colorectal(252;0.207)|Glioma(4;0.217)|all_neural(4;0.224)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00131)|GBM - Glioblastoma multiforme(1;1.1e-32)|Lung(2;1.4e-05)|LUSC - Lung squamous cell carcinoma(2;2.69e-05)|Colorectal(12;7.09e-05)|COAD - Colon adenocarcinoma(12;0.000261)|STAD - Stomach adenocarcinoma(243;0.235)		TCCAATCCATCCCAGAGACTC	0.403000													41	31					0	0	1	0	0
SHMT1	6470	broad.mit.edu	37	17	18238931	18238931	+	Silent	SNP	A	A	C			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr17:18238931A>C	ENST00000316694.3	-	8	1007	c.873T>G	c.(871-873)ctT>ctG	p.L291L	SHMT1_ENST00000539052.1_Silent_p.L153L|SHMT1_ENST00000354098.3_Intron|SHMT1_ENST00000352886.6_Intron	NM_004169.3	NP_004160.3	P34896	GLYC_HUMAN	serine hydroxymethyltransferase 1 (soluble)	291					carnitine biosynthetic process|folic acid metabolic process|L-serine catabolic process|one-carbon metabolic process|purine base biosynthetic process	cytosol|nucleus	glycine hydroxymethyltransferase activity|protein homodimerization activity|pyridoxal phosphate binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)	13					Glycine(DB00145)|Mimosine(DB01055)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	CAGAATTGATAAGAGACTCCA	0.502000													102	92					0	0	1	0	0
ZNF320	162967	broad.mit.edu	37	19	53385154	53385154	+	Silent	SNP	C	C	T			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr19:53385154C>T	ENST00000595635.1	-	8	726	c.225G>A	c.(223-225)caG>caA	p.Q75Q	ZNF320_ENST00000600930.1_Intron|ZNF320_ENST00000597909.1_Intron|ZNF320_ENST00000391781.2_Silent_p.Q75Q	NM_207333.2	NP_997216.2	A2RRD8	ZN320_HUMAN	zinc finger protein 320	75	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(4)|large_intestine(5)|liver(1)|lung(10)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(134;0.0534)		TTGCTTGTCTCTGCAATGTCC	0.393000													11	149					0	0	1	0	0
SATB1	6304	broad.mit.edu	37	3	18462478	18462478	+	Translation_Start_Site	SNP	G	G	C			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr3:18462478G>C	ENST00000338745.6	-	0	1716				SATB1_ENST00000417717.2_De_novo_Start_InFrame|SATB1_ENST00000493952.2_De_novo_Start_InFrame|TBC1D5_ENST00000414318.2_Intron|SATB1_ENST00000454909.2_De_novo_Start_InFrame	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN	SATB homeobox 1						cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	nuclear matrix|PML body	double-stranded DNA binding|sequence-specific DNA binding			NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						ACTGTCTAAAGATCACCTGCC	0.418000													7	49					0	0	1	0	0
SMC3	9126	broad.mit.edu	37	10	112360248	112360248	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr10:112360248C>G	ENST00000361804.4	+	22	2605	c.2479C>G	c.(2479-2481)Cga>Gga	p.R827G		NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	827					cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		TATTATTACTCGAGTAGAGAC	0.328000													4	86					0	0	1	0	0
LRRC14B	389257	broad.mit.edu	37	5	192316	192316	+	Silent	SNP	C	C	T			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr5:192316C>T	ENST00000328278.3	+	1	691	c.663C>T	c.(661-663)aaC>aaT	p.N221N		NM_001080478.1	NP_001073947.1	A6NHZ5	LR14B_HUMAN	leucine rich repeat containing 14B	221										endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(2)	10						TGGTGCACAACGTGCGGCTGC	0.716000													3	4					0	0	1	0	0
CCDC90B	60492	broad.mit.edu	37	11	82985036	82985036	+	Splice_Site	SNP	C	C	G	rs11556842		TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr11:82985036C>G	ENST00000529689.1	-	5	861		c.e5-1		CCDC90B_ENST00000529611.1_Splice_Site|CCDC90B_ENST00000529073.1_Splice_Site|CCDC90B_ENST00000525503.1_Splice_Site|CCDC90B_ENST00000455220.2_Splice_Site			Q9GZT6	CC90B_HUMAN	coiled-coil domain containing 90B							integral to membrane|mitochondrion				kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10		Acute lymphoblastic leukemia(157;0.103)				TTTTCATTTTCTAGGTACAGG	0.284000													6	5					0	0	1	0	0
PLOD3	8985	broad.mit.edu	37	7	100859523	100859523	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr7:100859523C>G	ENST00000223127.3	-	4	821	c.423G>C	c.(421-423)gaG>gaC	p.E141D		NM_001084.4	NP_001075.1	O60568	PLOD3_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3	141					protein modification process	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	31	Lung NSC(181;0.168)|all_lung(186;0.215)				Succinic acid(DB00139)|Vitamin C(DB00126)	AGCAGAAGCTCTCTGCAGAGA	0.637000													17	97					0	0	1	0	0
FBXO38	81545	broad.mit.edu	37	5	147807315	147807315	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr5:147807315C>G	ENST00000340253.5	+	15	2626	c.2458C>G	c.(2458-2460)Ctg>Gtg	p.L820V	FBXO38_ENST00000394370.3_Intron|FBXO38_ENST00000296701.6_Intron|FBXO38_ENST00000513826.1_Intron			Q6PIJ6	FBX38_HUMAN	F-box protein 38	820						cytoplasm|nucleus			ATG4C/FBXO38(2)	NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTTAGGACTCTGCCACAAGG	0.577000													13	4					0	0	1	0	0
LRRC49	54839	broad.mit.edu	37	15	71302304	71302304	+	Silent	SNP	C	C	T			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr15:71302304C>T	ENST00000260382.5	+	13	1826	c.1566C>T	c.(1564-1566)ttC>ttT	p.F522F	LRRC49_ENST00000443425.2_Silent_p.F478F|LRRC49_ENST00000560691.1_Silent_p.F228F|LRRC49_ENST00000560158.2_Silent_p.F210F|LRRC49_ENST00000544974.2_Silent_p.F512F|LRRC49_ENST00000560369.1_Silent_p.F527F|LRRC49_ENST00000436542.2_3'UTR	NM_001199017.1|NM_017691.3	NP_001185946.1|NP_060161.2	Q8IUZ0	LRC49_HUMAN	leucine rich repeat containing 49	522						cytoplasm|microtubule				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						TAAGCCATTTCAGTATGCAGA	0.318000													17	22					0	0	1	0	0
HARBI1	283254	broad.mit.edu	37	11	46625165	46625165	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr11:46625165G>A	ENST00000326737.3	-	3	1212	c.965C>T	c.(964-966)cCg>cTg	p.P322L		NM_173811.3	NP_776172.1	Q96MB7	HARB1_HUMAN	harbinger transposase derived 1	322						cytoplasm|nucleus	metal ion binding|nuclease activity			large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)	3						CTCCTCTTCCGGGGGCTGTTC	0.512000													21	29					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577085	7577085	+	Missense_Mutation	SNP	C	C	T	rs112431538		TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr17:7577085C>T	ENST00000420246.2	-	8	985	c.853G>A	c.(853-855)Gag>Aag	p.E285K	TP53_ENST00000359597.4_Missense_Mutation_p.E285K|TP53_ENST00000455263.2_Missense_Mutation_p.E285K|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.E285K|TP53_ENST00000269305.4_Missense_Mutation_p.E285K	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	285	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		E -> A (in a sporadic cancer; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.E285K(111)|p.E285*(24)|p.0?(8)|p.E285Q(4)|p.?(2)|p.R283fs*16(2)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.T284_G293del10(1)|p.E285_L289delEEENL(1)|p.E285fs*60(1)|p.G279fs*59(1)|p.R283fs*56(1)|p.E285fs*20(1)|p.E285fs*13(1)|p.R283fs*59(1)|p.V272_K292del21(1)|p.E285_N288delEEEN(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TTCTCTTCCTCTGTGCGCCGG	0.562000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			28	9					0	0	1	0	0
SYCE1	93426	broad.mit.edu	37	10	135370596	135370596	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr10:135370596C>G	ENST00000368517.3	-	7	469	c.331G>C	c.(331-333)Gag>Cag	p.E111Q	SYCE1_ENST00000432597.2_Missense_Mutation_p.E111Q|SPRN_ENST00000541506.1_Intron|SYCE1_ENST00000343131.5_Missense_Mutation_p.E147Q	NM_130784.2	NP_570140.1	Q8N0S2	SYCE1_HUMAN	synaptonemal complex central element protein 1	147					cell division	central element				breast(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|stomach(3)|urinary_tract(1)	19		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		TTGTTCTTCTCTTCTTCAATC	0.498000													14	290					0	0	1	0	0
USPL1	10208	broad.mit.edu	37	13	31233392	31233392	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr13:31233392G>C	ENST00000255304.4	+	9	3520	c.3178G>C	c.(3178-3180)Gat>Cat	p.D1060H		NM_005800.4	NP_005791.3	Q5W0Q7	USPL1_HUMAN	ubiquitin specific peptidase like 1	1060					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(15)|pancreas(3)|skin(3)	34		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)		GATGAAGACTGATATTTTCGA	0.378000													7	56					0	0	1	0	0
ZNF226	7769	broad.mit.edu	37	19	44680376	44680376	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr19:44680376C>T	ENST00000590089.1	+	7	1328	c.961C>T	c.(961-963)Cat>Tat	p.H321Y	ZNF226_ENST00000337433.5_Missense_Mutation_p.H321Y|ZNF226_ENST00000588883.1_3'UTR|ZNF226_ENST00000454662.2_Missense_Mutation_p.H321Y			Q9NYT6	ZN226_HUMAN	zinc finger protein 226	321					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						Prostate(69;0.0352)|all_neural(266;0.202)				TCAGGGCGCTCATCTACAGAC	0.428000													5	38					0	0	1	0	0
CYP4A11	1579	broad.mit.edu	37	1	47403778	47403778	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr1:47403778T>G	ENST00000310638.4	-	2	258	c.227A>C	c.(226-228)cAg>cCg	p.Q76P	CYP4A11_ENST00000371905.1_Missense_Mutation_p.Q76P|CYP4A11_ENST00000371904.4_Missense_Mutation_p.Q76P|CYP4A11_ENST00000475477.1_5'UTR|CYP4A11_ENST00000457840.2_5'UTR	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 11	76					long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					NADH(DB00157)	CACCCATTTCTGAATCCGTTG	0.488000													26	53					0	0	1	0	0
U2AF2	11338	broad.mit.edu	37	19	56166482	56166482	+	Silent	SNP	C	C	T			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr19:56166482C>T	ENST00000450554.2	+	1	971	c.12C>T	c.(10-12)ttC>ttT	p.F4F	U2AF2_ENST00000308924.4_Silent_p.F4F	NM_001012478.1|NM_007279.2	NP_001012496.1|NP_009210.1	P26368	U2AF2_HUMAN	U2 small nuclear RNA auxiliary factor 2	4					mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	nucleoplasm|spliceosomal complex	enzyme binding|nucleotide binding|RNA binding			biliary_tract(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(2)	21		Colorectal(82;0.00244)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		TGTCGGACTTCGACGAGTTCG	0.692000													6	15					0	0	1	0	0
ASH2L	9070	broad.mit.edu	37	8	37964677	37964677	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr8:37964677G>C	ENST00000343823.6	+	3	703	c.394G>C	c.(394-396)Gat>Cat	p.D132H	ASH2L_ENST00000250635.7_Missense_Mutation_p.D38H|ASH2L_ENST00000545394.1_Intron|ASH2L_ENST00000521652.1_Missense_Mutation_p.D38H|ASH2L_ENST00000428278.2_Missense_Mutation_p.D38H	NM_004674.4	NP_004665.2	Q9UBL3	ASH2L_HUMAN	ash2 (absent, small, or homeotic)-like (Drosophila)	132					hemopoiesis|histone H3-K4 methylation|positive regulation of cell proliferation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription from RNA polymerase II promoter	Set1C/COMPASS complex	metal ion binding|protein binding|transcription regulatory region DNA binding			NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|stomach(1)	19	Colorectal(12;0.000501)	Lung NSC(58;0.0295)|all_lung(54;0.0413)				ATTTGGCATAGATACCTCGTG	0.433000													12	228					0	0	1	0	0
CATSPER1	117144	broad.mit.edu	37	11	65789074	65789074	+	Silent	SNP	C	C	G			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr11:65789074C>G	ENST00000312106.5	-	4	1721	c.1584G>C	c.(1582-1584)ctG>ctC	p.L528L		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	528					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding			breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						GGGTCTGCATCAGCAAGAAGT	0.632000													9	6					0	0	1	0	0
RNASE10	338879	broad.mit.edu	37	14	20978796	20978796	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr14:20978796A>T	ENST00000430083.1	+	2	654	c.250A>T	c.(250-252)Act>Tct	p.T84S	RNASE10_ENST00000328444.5_Missense_Mutation_p.T56S			Q5GAN6	RNS10_HUMAN	ribonuclease, RNase A family, 10 (non-active)	56						extracellular region	nucleic acid binding|pancreatic ribonuclease activity			endometrium(1)|large_intestine(2)|lung(8)|urinary_tract(1)	12	all_cancers(95;0.00123)		Epithelial(56;1.81e-07)|all cancers(55;1.86e-06)	GBM - Glioblastoma multiforme(265;0.022)|READ - Rectum adenocarcinoma(17;0.191)		AGCTGAGGCCACTGAGGAGGG	0.537000													24	33					0	0	1	0	0
RYBP	23429	broad.mit.edu	37	3	72428559	72428559	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr3:72428559G>A	ENST00000477973.1	-	2	442	c.443C>T	c.(442-444)tCa>tTa	p.S148L		NM_012234.5	NP_036366.3	Q8N488	RYBP_HUMAN	RING1 and YY1 binding protein	200	Interaction with E4TF1B.				apoptosis|histone H2A monoubiquitination|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleoplasm	DNA binding|protein binding|transcription corepressor activity|zinc ion binding			prostate(1)|upper_aerodigestive_tract(1)	2		Prostate(10;0.00174)|Lung NSC(201;0.0659)|Myeloproliferative disorder(1037;0.204)		BRCA - Breast invasive adenocarcinoma(55;0.000197)|Epithelial(33;0.00068)|LUSC - Lung squamous cell carcinoma(21;0.00228)|Lung(16;0.00677)|KIRC - Kidney renal clear cell carcinoma(39;0.198)|Kidney(39;0.232)		GCCACCAGCTGAGAATTGATC	0.388000													16	18					0	0	1	0	0
NRIP3	56675	broad.mit.edu	37	11	9007292	9007292	+	Silent	SNP	G	G	A			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr11:9007292G>A	ENST00000309166.3	-	4	641	c.528C>T	c.(526-528)ggC>ggT	p.G176G	NRIP3_ENST00000531090.1_Intron	NM_020645.2	NP_065696.1	Q9NQ35	NRIP3_HUMAN	nuclear receptor interacting protein 3	176					proteolysis		aspartic-type endopeptidase activity			large_intestine(1)|lung(4)|skin(1)|stomach(1)	7				Epithelial(150;4.77e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0241)		GGCGGAGGGAGCCCAGTGTGA	0.542000													34	40					0	0	1	0	0
EXOC8	149371	broad.mit.edu	37	1	231473420	231473420	+	Silent	SNP	C	C	T			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr1:231473420C>T	ENST00000366645.1	-	1	178	c.60G>A	c.(58-60)gcG>gcA	p.A20A	SPRTN_ENST00000391858.4_5'UTR|EXOC8_ENST00000360394.2_Silent_p.A24A			Q8IYI6	EXOC8_HUMAN	exocyst complex component 8	24					exocytosis|protein transport	growth cone|nucleus	protein binding			cervix(2)|endometrium(1)|large_intestine(2)|liver(1)|lung(5)|prostate(1)|skin(1)|stomach(1)	14	Breast(184;0.0871)	all_cancers(173;0.151)|Prostate(94;0.183)				CGTACAGCCGCGCCTCAAAAC	0.677000													6	50					0	0	1	0	0
BPIFA1	51297	broad.mit.edu	37	20	31829196	31829196	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr20:31829196G>A	ENST00000354297.4	+	6	658	c.587G>A	c.(586-588)gGc>gAc	p.G196D	BPIFA1_ENST00000375422.2_Missense_Mutation_p.G196D|BPIFA1_ENST00000375413.4_Missense_Mutation_p.G196D	NM_130852.2	NP_570913.1	Q9NP55	PLUNC_HUMAN	BPI fold containing family A, member 1	196					innate immune response	extracellular region	lipid binding										TTCAGACTTGGCCCCCTCCCC	0.542000													97	165					0	0	1	0	0
CEBPD	1052	broad.mit.edu	37	8	48650425	48650425	+	Silent	SNP	G	G	A			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr8:48650425G>A	ENST00000408965.3	-	1	1223	c.258C>T	c.(256-258)ttC>ttT	p.F86F		NM_005195.3	NP_005186.2	P49716	CEBPD_HUMAN	CCAAT/enhancer binding protein (C/EBP), delta	86					transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			lung(1)	1		all_cancers(86;0.0782)|Lung NSC(58;0.00363)|all_epithelial(80;0.0042)|all_lung(54;0.00914)				GATTGCTGTTGAAGAGGTCGG	0.716000													5	5					0	0	1	0	0
ZZEF1	23140	broad.mit.edu	37	17	3928237	3928237	+	Silent	SNP	C	C	T			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr17:3928237C>T	ENST00000381638.2	-	43	7192	c.7068G>A	c.(7066-7068)ctG>ctA	p.L2356L		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	2356							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						ACAATCCTTTCAGGGCCAGGG	0.493000													8	108					0	0	1	0	0
FBXL20	84961	broad.mit.edu	37	17	37421664	37421664	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr17:37421664G>A	ENST00000264658.6	-	13	1236	c.976C>T	c.(976-978)Cga>Tga	p.R326*	FBXL20_ENST00000577399.1_Nonsense_Mutation_p.R328*|FBXL20_ENST00000394294.3_Nonsense_Mutation_p.R294*|FBXL20_ENST00000583610.1_Nonsense_Mutation_p.R326*	NM_032875.2	NP_116264.2	Q96IG2	FXL20_HUMAN	F-box and leucine-rich repeat protein 20	326						cytoplasm				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22			LUAD - Lung adenocarcinoma(14;0.146)			ACTTGAAGTCGAGGACAGTGT	0.338000													16	101					0	0	1	0	0
CDH7	1005	broad.mit.edu	37	18	63489364	63489364	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr18:63489364C>A	ENST00000536984.2	+	5	1367	c.673C>A	c.(673-675)Cag>Aag	p.Q225K	CDH7_ENST00000397968.2_Missense_Mutation_p.Q225K|CDH7_ENST00000323011.3_Missense_Mutation_p.Q225K			Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	225	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				GGCTAAAGACCAGTATTTGCT	0.403000													18	34					5.35267e-07	5.50473e-07	1	1	0
ARHGEF7	8874	broad.mit.edu	37	13	111919901	111919901	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr13:111919901C>G	ENST00000544132.1	+	8	791	c.127C>G	c.(127-129)Cga>Gga	p.R43G	ARHGEF7_ENST00000218789.5_Silent_p.P162P|ARHGEF7_ENST00000370623.3_Silent_p.P247P|ARHGEF7_ENST00000375739.2_Silent_p.P290P|ARHGEF7_ENST00000426073.2_Silent_p.P162P|ARHGEF7_ENST00000478679.1_Silent_p.P84P|ARHGEF7_ENST00000483189.1_3'UTR|ARHGEF7_ENST00000375723.1_Silent_p.P162P|ARHGEF7_ENST00000317133.5_Silent_p.P319P|ARHGEF7_ENST00000375736.4_Silent_p.P162P|ARHGEF7_ENST00000375737.5_Silent_p.P237P|ARHGEF7_ENST00000375741.2_Silent_p.P340P			Q14155	ARHG7_HUMAN	Rho guanine nucleotide exchange factor (GEF) 7	0	CH.				apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	protein binding|Rho guanyl-nucleotide exchange factor activity	p.P162P(1)|p.P319P(1)		breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	41	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)			CCAGGTTGCCCGAAGCTCAGC	0.453000													33	130					0	0	1	0	0
AREL1	9870	broad.mit.edu	37	14	75151182	75151182	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr14:75151182C>A	ENST00000356357.4	-	4	733	c.218G>T	c.(217-219)gGc>gTc	p.G73V	AREL1_ENST00000557401.1_5'UTR	NM_001039479.1	NP_001034568.1			apoptosis resistant E3 ubiquitin protein ligase 1																		CATGCTGTGGCCCACCTCATA	0.552000													3	53					1	1	1	1	0
ZNF750	79755	broad.mit.edu	37	17	80789425	80789425	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr17:80789425G>C	ENST00000269394.3	-	2	1739	c.906C>G	c.(904-906)taC>taG	p.Y302*	TBCD_ENST00000355528.4_Intron|TBCD_ENST00000397466.2_Intron|TBCD_ENST00000539345.2_Intron|ZNF750_ENST00000572562.1_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	302						intracellular	zinc ion binding	p.Y302Y(1)		NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			TGTAGTGATCGTATGTGGCTG	0.547000													115	31					0	0	1	0	0
GTF2IRD1	9569	broad.mit.edu	37	7	73952488	73952488	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr7:73952488G>A	ENST00000476977.1	+	12	3123	c.1432G>A	c.(1432-1434)Gaa>Aaa	p.E478K	GTF2IRD1_ENST00000424337.2_Missense_Mutation_p.E478K|GTF2IRD1_ENST00000265755.3_Missense_Mutation_p.E478K|GTF2IRD1_ENST00000489094.1_3'UTR|GTF2IRD1_ENST00000455841.2_Missense_Mutation_p.E510K			Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1	478						nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CAGCATGTCTGAAGACTGTGG	0.642000													5	65					0	0	1	0	0
RANBP3L	202151	broad.mit.edu	37	5	36265071	36265071	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr5:36265071G>T	ENST00000296604.3	-	6	955	c.470C>A	c.(469-471)aCa>aAa	p.T157K	RANBP3L_ENST00000515759.1_Missense_Mutation_p.T157K|RANBP3L_ENST00000502994.1_Missense_Mutation_p.T182K	NM_145000.3	NP_659437.3	Q86VV4	RNB3L_HUMAN	RAN binding protein 3-like	157					intracellular transport					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	16	all_lung(31;4.52e-05)		Epithelial(62;0.0543)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.149)|Colorectal(62;0.202)			CTTATTATTTGTTTTTTCTTT	0.418000													36	63					1.36161e-19	1.43286e-19	1	1	0
CDK5RAP2	55755	broad.mit.edu	37	9	123169396	123169396	+	Silent	SNP	G	G	C			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr9:123169396G>C	ENST00000349780.4	-	32	5036	c.4857C>G	c.(4855-4857)ctC>ctG	p.L1619L	CDK5RAP2_ENST00000359309.3_Silent_p.L1578L|CDK5RAP2_ENST00000360190.4_Intron|CDK5RAP2_ENST00000360822.3_Silent_p.L1587L	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	1619					brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						GCTGTTCCTTGAGCCTGCTCT	0.592000													18	56					0	0	1	0	0
MTDH	92140	broad.mit.edu	37	8	98735238	98735238	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr8:98735238G>C	ENST00000336273.3	+	11	1981	c.1653G>C	c.(1651-1653)aaG>aaC	p.K551N	MTDH_ENST00000519934.1_Missense_Mutation_p.K495N	NM_178812.3	NP_848927.2	Q86UE4	LYRIC_HUMAN	metadherin	551					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)			CAAATACCAAGCAAAATAGTG	0.373000													32	95					0	0	1	0	0
MIR99AHG	388815	broad.mit.edu	37	21	17763950	17763950	+	RNA	SNP	G	G	A			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr21:17763950G>A	ENST00000458468.1	+	0	469					NR_027790.1																						TTTCTGAGATGAAGAGAATTC	0.313000													8	46					0	0	1	0	0
ZNF699	374879	broad.mit.edu	37	19	9407596	9407596	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr19:9407596C>G	ENST00000591998.1	-	6	712	c.484G>C	c.(484-486)Gag>Cag	p.E162Q	ZNF699_ENST00000308650.3_Missense_Mutation_p.E162Q			Q32M78	ZN699_HUMAN	zinc finger protein 699	162					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TAGATGTTCTCTACCATATGA	0.299000													5	18					0	0	1	0	0
SNHG6	641638	broad.mit.edu	37	8	67834724	67834724	+	RNA	SNP	T	T	A			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr8:67834724T>A	ENST00000364849.1	-	0	66				SNORD87_ENST00000522478.1_RNA	NR_002598.1																						GTCTTAAAATTATTTCTTCAA	0.313000													27	33					0	0	1	0	0
ZNF347	84671	broad.mit.edu	37	19	53652521	53652521	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr19:53652521C>G	ENST00000452676.2	-	3	541	c.115G>C	c.(115-117)Gag>Cag	p.E39Q	ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000334197.7_Missense_Mutation_p.E39Q|ZNF347_ENST00000601469.2_Missense_Mutation_p.E39Q	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN	zinc finger protein 347	39	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		CTATAATTCTCCAACATCACG	0.517000													41	71					0	0	1	0	0
C2orf71	388939	broad.mit.edu	37	2	29294945	29294945	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr2:29294945C>G	ENST00000331664.5	-	1	2182	c.2183G>C	c.(2182-2184)aGa>aCa	p.R728T		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	728					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						GACGGATGTTCTGGTGGGACA	0.547000													5	80					0	0	1	0	0
HNRNPF	3185	broad.mit.edu	37	10	43882509	43882509	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr10:43882509C>T	ENST00000443950.2	-	3	1310	c.824G>A	c.(823-825)aGa>aAa	p.R275K	HNRNPF_ENST00000357065.4_Missense_Mutation_p.R275K|HNRNPF_ENST00000337970.3_Missense_Mutation_p.R275K|HNRNPF_ENST00000544000.1_Missense_Mutation_p.R275K|HNRNPF_ENST00000356053.3_Missense_Mutation_p.R275K	NM_001098208.1	NP_001091678.1	P52597	HNRPF_HUMAN	heterogeneous nuclear ribonucleoprotein F	275					regulation of RNA splicing	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|urinary_tract(1)	19						GTCGCCGTATCTGTGGTCATA	0.562000													16	11					0	0	1	0	0
PNLDC1	154197	broad.mit.edu	37	6	160222146	160222146	+	Splice_Site	SNP	C	C	G			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr6:160222146C>G	ENST00000275275.5	+	3	274	c.101_splice	c.e3-1	p.L35_splice	PNLDC1_ENST00000392167.3_Splice_Site_p.L46_splice	NM_001271862.1|NM_173516.1	NP_001258791.1|NP_775787.1	Q8NA58	PNDC1_HUMAN	poly(A)-specific ribonuclease (PARN)-like domain containing 1	35						integral to membrane|nucleus	nucleic acid binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	31		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		TGTTCACAGTCTTTTTGATTT	0.483000													5	117					0	0	1	0	0
MAGEL2	54551	broad.mit.edu	37	15	23890666	23890666	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr15:23890666G>A	ENST00000532292.1	-	1	509	c.415C>T	c.(415-417)Cgc>Tgc	p.R139C		NM_019066.4	NP_061939.3			MAGE-like 2											breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		GGGGCCCTGCGCTCCTTCGAG	0.577000													10	15					0	0	1	0	0
HIST1H4C	8364	broad.mit.edu	37	6	26104378	26104378	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr6:26104378G>C	ENST00000377803.2	+	1	275	c.203G>C	c.(202-204)cGa>cCa	p.R68P		NM_003542.3	NP_003533.1	P62805	H4_HUMAN	histone cluster 1, H4c	68					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding	p.R68P(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)	7						AACGTTATTCGAGACGCCGTC	0.527000													9	29					0	0	1	0	0
GNAQ	2776	broad.mit.edu	37	9	80537224	80537224	+	Silent	SNP	C	C	T			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr9:80537224C>T	ENST00000286548.4	-	2	396	c.174G>A	c.(172-174)caG>caA	p.Q58Q		NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein), q polypeptide	58					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity			NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						TGATTCTCATCTGCTTGATAA	0.463000			Mis		uveal melanoma								66	82					0	0	1	0	0
EIF4A2	1974	broad.mit.edu	37	3	186504984	186504984	+	Silent	SNP	C	C	G			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr3:186504984C>G	ENST00000323963.5	+	8	904	c.840C>G	c.(838-840)ctC>ctG	p.L280L	EIF4A2_ENST00000356531.5_Silent_p.L185L|EIF4A2_ENST00000440191.2_Silent_p.L281L			Q14240	IF4A2_HUMAN	eukaryotic translation initiation factor 4A2	280	Helicase C-terminal.				interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	ATP binding|ATP-dependent helicase activity|protein binding|translation initiation factor activity			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|urinary_tract(1)	28	all_cancers(143;2.68e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.07e-20)	GBM - Glioblastoma multiforme(93;0.0704)		TTATTTTTCTCAATACGAGGC	0.423000			T	BCL6	NHL								27	139					0	0	1	0	0
TSSK6	83983	broad.mit.edu	37	19	19626011	19626011	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr19:19626011A>G	ENST00000360913.3	-	1	827	c.226T>C	c.(226-228)Ttc>Ctc	p.F76L	TSSK6_ENST00000585580.3_Missense_Mutation_p.F76L			Q9BXA6	TSSK6_HUMAN	testis-specific serine kinase 6	76	Protein kinase.				multicellular organismal development|sperm chromatin condensation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	16						ATGAACTCGAAGACGTGCACG	0.667000													11	26					0	0	1	0	0
SPTLC2	9517	broad.mit.edu	37	14	78028787	78028787	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr14:78028787G>C	ENST00000216484.2	-	6	995	c.802C>G	c.(802-804)Ctg>Gtg	p.L268V		NM_004863.3	NP_004854.1	O15270	SPTC2_HUMAN	serine palmitoyltransferase, long chain base subunit 2	268						integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(5)	19			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0346)	L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	CTGGCTCCCAGAACCAGTGAT	0.453000													32	42					0	0	1	0	0
WNT7B	7477	broad.mit.edu	37	22	46319005	46319005	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr22:46319005G>C	ENST00000339464.4	-	4	1155	c.781C>G	c.(781-783)Cag>Gag	p.Q261E	WNT7B_ENST00000410089.1_Missense_Mutation_p.Q245E|WNT7B_ENST00000409496.3_Missense_Mutation_p.Q265E	NM_058238.2	NP_478679.1	P56706	WNT7B_HUMAN	wingless-type MMTV integration site family, member 7B	261					activation of JUN kinase activity|anterior/posterior pattern formation|axis specification|axonogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|central nervous system vasculogenesis|chorio-allantoic fusion|developmental growth involved in morphogenesis|embryonic placenta morphogenesis|establishment or maintenance of polarity of embryonic epithelium|fibroblast proliferation|forebrain regionalization|inner medullary collecting duct development|lens fiber cell development|lobar bronchus development|lung epithelium development|lung morphogenesis|lung-associated mesenchyme development|mammary gland epithelium development|metanephric collecting duct development|metanephric loop of Henle development|metanephros morphogenesis|negative regulation of smoothened signaling pathway|outer medullary collecting duct development|oxygen homeostasis|positive regulation of JNK cascade|positive regulation of osteoblast differentiation|renal inner medulla development|renal outer medulla development|stem cell proliferation|synapse organization|trachea cartilage morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled binding|signal transducer activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	19		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|LUAD - Lung adenocarcinoma(64;0.247)		ATGGGCTTCTGATAGCTGCGC	0.647000													7	62					0	0	1	0	0
C11orf24	53838	broad.mit.edu	37	11	68029521	68029521	+	Silent	SNP	G	G	A			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr11:68029521G>A	ENST00000304271.6	-	4	1344	c.942C>T	c.(940-942)atC>atT	p.I314I	C11orf24_ENST00000533310.1_Intron	NM_022338.3	NP_071733.1	Q96F05	CK024_HUMAN	chromosome 11 open reading frame 24	314	Pro-rich.					integral to membrane				endometrium(3)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)	13						CCATCTCAGGGATTGGGCTGG	0.667000													10	34					0	0	1	0	0
GOLGA2	2801	broad.mit.edu	37	9	131022404	131022404	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr9:131022404C>G	ENST00000421699.2	-	18	1754	c.1742G>C	c.(1741-1743)gGa>gCa	p.G581A		NM_004486.4	NP_004477.3	Q08379	GOGA2_HUMAN	golgin A2	581						Golgi cisterna membrane	protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						CAGCTTCTTTCCCAGCTCCCT	0.612000													7	124					0	0	1	0	0
ITSN2	50618	broad.mit.edu	37	2	24480764	24480764	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr2:24480764G>A	ENST00000355123.4	-	23	3324	c.2881C>T	c.(2881-2883)Cgg>Tgg	p.R961W	ITSN2_ENST00000361999.3_Missense_Mutation_p.R934W|ITSN2_ENST00000406921.3_Missense_Mutation_p.R961W	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	961					endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TACTCTTCCCGTTTTACTTCA	0.403000													27	43					0	0	1	0	0
COL27A1	85301	broad.mit.edu	37	9	117015171	117015171	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr9:117015171A>C	ENST00000356083.3	+	27	3491	c.3100A>C	c.(3100-3102)Atg>Ctg	p.M1034L		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	1034	Collagen-like 7.|Pro-rich.|Triple-helical region.				cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						TCATCCTGGAATGCCAGGTGG	0.567000													21	31					0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164785231	164785231	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr3:164785231T>G	ENST00000264382.3	-	6	594	c.532A>C	c.(532-534)Aaa>Caa	p.K178Q		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	178	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	GTAAACTCTTTTACATACTGA	0.343000										HNSCC(35;0.089)			33	79					0	0	1	0	0
TRAK2	66008	broad.mit.edu	37	2	202285154	202285154	+	Missense_Mutation	SNP	G	G	A	rs146913241	byFrequency	TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr2:202285154G>A	ENST00000332624.3	-	2	505	c.77C>T	c.(76-78)tCg>tTg	p.S26L	TRAK2_ENST00000430254.1_Missense_Mutation_p.S26L|TRAK2_ENST00000451703.1_5'UTR	NM_015049.2	NP_055864.2	O60296	TRAK2_HUMAN	trafficking protein, kinesin binding 2	26						early endosome|plasma membrane	GABA receptor binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	23						GATGCTCTCCGAGTCTCTGTG	0.398000													11	88					0	0	1	0	0
BRPF1	7862	broad.mit.edu	37	3	9786777	9786777	+	Silent	SNP	G	G	C			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr3:9786777G>C	ENST00000383829.2	+	10	3410	c.3006G>C	c.(3004-3006)cgG>cgC	p.R1002R	BRPF1_ENST00000424362.1_Silent_p.R995R|BRPF1_ENST00000302054.3_Silent_p.R996R|BRPF1_ENST00000457855.1_Silent_p.R996R|BRPF1_ENST00000433861.2_Silent_p.R901R	NM_001003694.1	NP_001003694.1	P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1	996	Required for RUNX1 and RUNX2 transcriptional activation.				histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane	DNA binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					GCCTTCCCCGGAGCAGCTCAG	0.557000													11	18					0	0	1	0	0
MAPK10	5602	broad.mit.edu	37	4	87028405	87028405	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr4:87028405C>T	ENST00000395169.3	-	5	943	c.223G>A	c.(223-225)Gtc>Atc	p.V75I	MAPK10_ENST00000513839.1_5'UTR|MAPK10_ENST00000395161.2_Missense_Mutation_p.V113I|MAPK10_ENST00000395157.3_5'UTR|MAPK10_ENST00000359221.3_Missense_Mutation_p.V113I|MAPK10_ENST00000449047.2_5'UTR|MAPK10_ENST00000395160.3_5'UTR|MAPK10_ENST00000361569.2_Missense_Mutation_p.V113I|MAPK10_ENST00000395166.1_Missense_Mutation_p.V75I	NM_138980.2|NM_138982.2	NP_620446.1|NP_620448.1	P53779	MK10_HUMAN	mitogen-activated protein kinase 10	113	Protein kinase.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|JUN kinase activity|MAP kinase kinase activity|protein binding			breast(1)|central_nervous_system(1)|stomach(1)	3		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.243)		OV - Ovarian serous cystadenocarcinoma(123;0.002)		TTCATGAGGACCAGCTCCCGG	0.438000													28	36					0	0	1	0	0
NUP188	23511	broad.mit.edu	37	9	131745290	131745290	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr9:131745290C>G	ENST00000372577.2	+	17	1800	c.1779C>G	c.(1777-1779)atC>atG	p.I593M		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	593					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						CATCTCGCATCTACATGCTGC	0.532000													40	65					0	0	1	0	0
MUC3A	4584	broad.mit.edu	37	7	100552889	100552889	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr7:100552889G>C	ENST00000319509.7	+	2	1534	c.1534G>C	c.(1534-1536)Gac>Cac	p.D512H						mucin 3A, cell surface associated											breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						AGGCACCTGTGACAATGGTGG	0.557000													10	241					0	0	1	0	0
CSRP3	8048	broad.mit.edu	37	11	19209824	19209824	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr11:19209824G>A	ENST00000533783.1	-	4	380	c.140C>T	c.(139-141)aCg>aTg	p.T47M	CSRP3_ENST00000265968.3_Missense_Mutation_p.T47M	NM_003476.4	NP_003467.1	P50461	CSRP3_HUMAN	cysteine and glycine-rich protein 3 (cardiac LIM protein)	47	LIM zinc-binding 1.				cell differentiation|skeletal muscle tissue development	cytoskeleton|nucleus	protein binding|zinc ion binding			kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(2)	10						CGCGACTGTCGTGCTGTCAAG	0.557000													37	50					0	0	1	0	0
MSL2	55167	broad.mit.edu	37	3	135870295	135870295	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr3:135870295G>C	ENST00000309993.2	-	2	2160	c.1428C>G	c.(1426-1428)tgC>tgG	p.C476W	MSL2_ENST00000434835.2_Missense_Mutation_p.C402W	NM_018133.3	NP_060603.2	Q9HCI7	MSL2_HUMAN	male-specific lethal 2 homolog (Drosophila)	476					histone H4-K16 acetylation	MSL complex	zinc ion binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	18						GTTGGCCTCGGCATGTAAGAA	0.478000													21	48					0	0	1	0	0
OR6F1	343169	broad.mit.edu	37	1	247875239	247875239	+	Silent	SNP	A	A	C			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr1:247875239A>C	ENST00000302084.2	-	1	866	c.819T>G	c.(817-819)gcT>gcG	p.A273A	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	273					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			GGACGTGGACAGCTTTGATCA	0.483000													43	55					0	0	1	0	0
WHSC1L1	54904	broad.mit.edu	37	8	38172976	38172976	+	Silent	SNP	C	C	T			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr8:38172976C>T	ENST00000317025.8	-	11	2590	c.2073G>A	c.(2071-2073)tcG>tcA	p.S691S	WHSC1L1_ENST00000527502.1_Silent_p.S691S|WHSC1L1_ENST00000433384.2_Silent_p.S691S	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	691					cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			TGCCTCTTCTCGACAAACTTG	0.428000			T	NUP98	AML								29	271					0	0	1	0	0
OR4S2	219431	broad.mit.edu	37	11	55419207	55419207	+	Silent	SNP	C	C	T			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr11:55419207C>T	ENST00000312422.2	+	1	828	c.828C>T	c.(826-828)atC>atT	p.I276I		NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S, member 2	276					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				ACACCATTATCACTCCCATGT	0.408000													6	161					0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7569532	7569532	+	Silent	SNP	C	C	T			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr6:7569532C>T	ENST00000379802.3	+	12	1874	c.1533C>T	c.(1531-1533)atC>atT	p.I511I	DSP_ENST00000418664.2_Silent_p.I511I	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	511	Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TGGGGCTGATCATCCCTCCTC	0.577000													21	45					0	0	1	0	0
TP53BP1	7158	broad.mit.edu	37	15	43708450	43708450	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr15:43708450G>C	ENST00000263801.3	-	22	5083	c.4831C>G	c.(4831-4833)Ctt>Gtt	p.L1611V	TP53BP1_ENST00000382039.3_Missense_Mutation_p.L1566V|TP53BP1_ENST00000382044.4_Missense_Mutation_p.L1616V|TP53BP1_ENST00000450115.2_Missense_Mutation_p.L1616V	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	1611					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		GCCTTTGTAAGAGGTGTTACT	0.483000								Other conserved DNA damage response genes					5	75					0	0	1	0	0
CR1	1378	broad.mit.edu	37	1	207787831	207787831	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr1:207787831G>T	ENST00000367049.4	+	40	6658	c.6658G>T	c.(6658-6660)Gaa>Taa	p.E2220*	CR1_ENST00000400960.2_Nonsense_Mutation_p.E1770*|CR1_ENST00000367051.1_Nonsense_Mutation_p.E1770*|CR1_ENST00000367052.1_Nonsense_Mutation_p.E1770*|CR1_ENST00000367053.1_Nonsense_Mutation_p.E1770*	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1770					complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity	p.E2220*(6)|p.E1775*(6)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						TCCAGTGTGTGAACGTGAGTA	0.408000													5	45					8.12818e-05	8.26518e-05	1	1	0
NPAP1	23742	broad.mit.edu	37	15	24923324	24923324	+	Silent	SNP	T	T	A			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr15:24923324T>A	ENST00000329468.2	+	1	2784	c.2310T>A	c.(2308-2310)ccT>ccA	p.P770P		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		GAGCCACCCCTCAACCCAAAT	0.562000													55	112					0	0	1	0	0
AKAP6	9472	broad.mit.edu	37	14	33004796	33004796	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr14:33004796A>G	ENST00000280979.4	+	3	531	c.361A>G	c.(361-363)Atc>Gtc	p.I121V	AKAP6_ENST00000557272.1_Missense_Mutation_p.I121V|AKAP6_ENST00000557354.1_Missense_Mutation_p.I121V	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	121					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		TGTTGAGCAAATCCATGCCCT	0.473000													30	63					0	0	1	0	0
FAM9B	171483	broad.mit.edu	37	X	8995923	8995923	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chrX:8995923C>G	ENST00000362066.3	-	6	786	c.598G>C	c.(598-600)Gac>Cac	p.D200H	FAM9B_ENST00000327220.5_Missense_Mutation_p.D160H|FAM9B_ENST00000428477.1_Missense_Mutation_p.D160H			Q8IZU0	FAM9B_HUMAN	family with sequence similarity 9, member B	160						nucleus				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|urinary_tract(1)	11		Hepatocellular(5;0.219)				ACGAATTGGTCACGTAGCAGC	0.358000													4	30					0	0	1	0	0
ATHL1	80162	broad.mit.edu	37	11	294725	294725	+	Silent	SNP	C	C	G			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr11:294725C>G	ENST00000409548.2	+	14	2305	c.2190C>G	c.(2188-2190)ctC>ctG	p.L730L	ATHL1_ENST00000409479.1_Silent_p.L757L|ATHL1_ENST00000409655.1_Silent_p.L482L	NM_025092.4	NP_079368.3	Q32M88	ATHL1_HUMAN	ATH1, acid trehalase-like 1 (yeast)	730					carbohydrate metabolic process		hydrolase activity, acting on glycosyl bonds			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|skin(3)	17		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;5.38e-28)|Epithelial(43;3.25e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		CCGAGTCACTCACTGTGGACC	0.627000													11	178					0	0	1	0	0
SLC4A11	83959	broad.mit.edu	37	20	3210904	3210904	+	Missense_Mutation	SNP	G	G	A	rs121909388		TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr20:3210904G>A	ENST00000380059.3	-	13	1648	c.1547C>T	c.(1546-1548)tCg>tTg	p.S516L	SLC4A11_ENST00000380056.3_Missense_Mutation_p.S489L|SLC4A11_ENST00000539553.1_Missense_Mutation_p.S473L|SLC4A11_ENST00000474451.1_5'UTR	NM_001174090.1	NP_001167561.1	Q8NBS3	S4A11_HUMAN	solute carrier family 4, sodium borate transporter, member 11	489	Membrane (bicarbonate transporter).				cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						CTCCTCCGTCGACCTGCCAGG	0.637000													14	20					0	0	1	0	0
FOXI1	2299	broad.mit.edu	37	5	169532981	169532981	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr5:169532981C>T	ENST00000449804.2	+	1	65	c.20C>T	c.(19-21)cCg>cTg	p.P7L	FOXI1_ENST00000306268.6_Missense_Mutation_p.P7L	NM_012188.4|NM_144769.2	NP_036320.2|NP_658982.1	Q12951	FOXI1_HUMAN	forkhead box I1	7	Pro-rich.				epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TTCGACCTGCCGGCGCCCTCC	0.697000									Pendred syndrome				8	3					0	0	1	0	0
ATAD5	79915	broad.mit.edu	37	17	29220591	29220591	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr17:29220591G>C	ENST00000321990.4	+	21	5098	c.4720G>C	c.(4720-4722)Gat>Cat	p.D1574H		NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	1574					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				GGTAATATTAGATGATAGTGA	0.358000													11	46					0	0	1	0	0
SYT8	90019	broad.mit.edu	37	11	1858629	1858629	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr11:1858629C>G	ENST00000341958.3	+	8	1434	c.1132C>G	c.(1132-1134)Ctt>Gtt	p.L378V	SYT8_ENST00000535046.1_3'UTR|SYT8_ENST00000381968.3_Missense_Mutation_p.L392V			Q8NBV8	SYT8_HUMAN	synaptotagmin VIII	392						acrosomal vesicle|integral to membrane|plasma membrane|synaptic vesicle	transporter activity			breast(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	6		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GCAGCCCCGCCTTCGCCTGCG	0.726000													9	7					0	0	1	0	0
COPB2	9276	broad.mit.edu	37	3	139093347	139093347	+	Silent	SNP	G	G	A			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr3:139093347G>A	ENST00000333188.5	-	7	916	c.735C>T	c.(733-735)atC>atT	p.I245I	COPB2_ENST00000507777.1_Silent_p.I216I	NM_004766.2	NP_004757.1	P35606	COPB2_HUMAN	coatomer protein complex, subunit beta 2 (beta prime)	245					COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	24						CTGAACCTGTGATAATGATTG	0.388000													33	72					0	0	1	0	0
PRKD3	23683	broad.mit.edu	37	2	37520323	37520323	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr2:37520323G>C	ENST00000379066.1	-	3	1142	c.380C>G	c.(379-381)tCa>tGa	p.S127*	PRKD3_ENST00000234179.2_Nonsense_Mutation_p.S127*			O94806	KPCD3_HUMAN	protein kinase D3	127					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein binding|protein kinase C activity			breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.21)				TTCATCTGCTGAGGTAATCAG	0.408000													6	76					0	0	1	0	0
EIF2S2	8894	broad.mit.edu	37	20	32677564	32677564	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr20:32677564C>T	ENST00000374980.2	-	9	1195	c.974G>A	c.(973-975)cGa>cAa	p.R325Q		NM_003908.3	NP_003899.2	P20042	IF2B_HUMAN	eukaryotic translation initiation factor 2, subunit 2 beta, 38kDa	325						cytosol|eukaryotic translation initiation factor 2 complex	metal ion binding|protein binding|translation initiation factor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	11						GAGCTGTGCTCGCTTGCCCGT	0.473000													23	40					0	0	1	0	0
IGHM	3507	broad.mit.edu	37	14	106321097	106321097	+	RNA	SNP	C	C	T			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr14:106321097C>T	ENST00000390559.2	-	0	891																											AACCTCTCCCCGGAATTCCAG	0.617000													23	14					0	0	1	0	0
RDH12	145226	broad.mit.edu	37	14	68196078	68196078	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr14:68196078C>G	ENST00000551171.1	+	8	1153	c.829C>G	c.(829-831)Ctg>Gtg	p.L277V	RDH12_ENST00000267502.3_Missense_Mutation_p.L277V|RDH12_ENST00000539142.1_Missense_Mutation_p.L277V	NM_152443.2	NP_689656.2	Q96NR8	RDH12_HUMAN	retinol dehydrogenase 12 (all-trans/9-cis/11-cis)	277					photoreceptor cell maintenance|response to stimulus|retinol metabolic process	intracellular	binding|retinol dehydrogenase activity			large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(4)	12				all cancers(60;0.000704)|OV - Ovarian serous cystadenocarcinoma(108;0.00161)|BRCA - Breast invasive adenocarcinoma(234;0.00953)	Vitamin A(DB00162)	CCTGGAGCCCCTGAGTGGCAA	0.642000													5	86					0	0	1	0	0
SIPA1L1	26037	broad.mit.edu	37	14	72138364	72138364	+	Silent	SNP	T	T	C			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr14:72138364T>C	ENST00000555818.1	+	8	3132	c.2784T>C	c.(2782-2784)agT>agC	p.S928S	SIPA1L1_ENST00000381232.3_Silent_p.S928S|SIPA1L1_ENST00000537413.1_Silent_p.S403S|SIPA1L1_ENST00000358550.2_Silent_p.S928S	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	928					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		CAGTGGGTAGTTTTATTAACA	0.398000													53	35					0	0	1	0	0
PTX3	5806	broad.mit.edu	37	3	157160376	157160376	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr3:157160376G>C	ENST00000295927.3	+	3	899	c.754G>C	c.(754-756)Gag>Cag	p.E252Q	VEPH1_ENST00000392833.2_Intron|VEPH1_ENST00000392832.2_Intron|VEPH1_ENST00000362010.2_Intron|VEPH1_ENST00000543418.1_Intron	NM_002852.3	NP_002843.2	P26022	PTX3_HUMAN	pentraxin 3, long	252	Pentaxin.				inflammatory response	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|stomach(1)	10			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			GGTGGGTGGAGAGGAGAACAA	0.488000													39	78					0	0	1	0	0
ZC3H3	23144	broad.mit.edu	37	8	144621302	144621302	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr8:144621302G>A	ENST00000262577.5	-	2	266	c.235C>T	c.(235-237)Cgg>Tgg	p.R79W		NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	79					mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			CCCGGGGGCCGATTCACGAGG	0.672000													62	46					0	0	1	0	0
GKN1	56287	broad.mit.edu	37	2	69206027	69206027	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr2:69206027C>T	ENST00000377938.2	+	4	334	c.271C>T	c.(271-273)Caa>Taa	p.Q91*		NM_019617.3	NP_062563.3	Q9NS71	GKN1_HUMAN	gastrokine 1	91	BRICHOS.				digestion|positive regulation of cell division	extracellular region				breast(2)|large_intestine(4)|lung(5)	11						CAGACTCTTTCAAAAGAAGAC	0.433000													4	53					0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21745088	21745088	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr7:21745088T>G	ENST00000328843.6	+	40	6531	c.6500T>G	c.(6499-6501)cTt>cGt	p.L2167R	DNAH11_ENST00000409508.3_Missense_Mutation_p.L2160R			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2167	AAA 2 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GTTGTCCAGCTTGAGGAACTG	0.433000									Kartagener syndrome				7	12					0	0	1	0	0
MMP14	4323	broad.mit.edu	37	14	23310776	23310776	+	Missense_Mutation	SNP	C	C	T	rs139231227		TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr14:23310776C>T	ENST00000311852.6	+	2	446	c.185C>T	c.(184-186)tCa>tTa	p.S62L	MMP14_ENST00000548162.1_3'UTR	NM_004995.2	NP_004986.1	P50281	MMP14_HUMAN	matrix metallopeptidase 14 (membrane-inserted)	62						extracellular matrix|integral to plasma membrane|melanosome	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20	all_cancers(95;9.47e-05)			GBM - Glioblastoma multiforme(265;0.00551)		CAGTCACTCTCAGCGGCCATC	0.557000													3	20					0	0	1	0	0
ETV1	2115	broad.mit.edu	37	7	14027742	14027742	+	Silent	SNP	G	G	A			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr7:14027742G>A	ENST00000343495.5	-	4	840	c.102C>T	c.(100-102)ttC>ttT	p.F34F	ETV1_ENST00000403685.1_Silent_p.F34F|ETV1_ENST00000405358.4_Silent_p.F48F|ETV1_ENST00000242066.5_Silent_p.F34F|ETV1_ENST00000405218.2_Silent_p.F34F|ETV1_ENST00000430479.1_Silent_p.F34F|ETV1_ENST00000405192.2_Silent_p.F34F			P50549	ETV1_HUMAN	ets variant 1	34					transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						CTCTGTTAATGAATTTTCTTT	0.378000			T	"""EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"""	"""Ewing sarcoma, prostate"""								4	36					0	0	1	0	0
HOXC13	3229	broad.mit.edu	37	12	54332775	54332775	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr12:54332775G>A	ENST00000243056.3	+	1	241	c.85G>A	c.(85-87)Ggc>Agc	p.G29S	HOXC-AS5_ENST00000512916.2_RNA	NM_017410.2	NP_059106.2	P31276	HXC13_HUMAN	homeobox C13	29	Gly-rich.					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(1)|skin(1)	3						gagcggcatcggcggcggcgg	0.697000			T	NUP98	AML								5	5					0	0	1	0	0
C3orf20	84077	broad.mit.edu	37	3	14799082	14799082	+	Silent	SNP	C	C	T			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr3:14799082C>T	ENST00000253697.3	+	13	2597	c.2145C>T	c.(2143-2145)atC>atT	p.I715I	C3orf20_ENST00000435614.1_Silent_p.I593I|C3orf20_ENST00000412910.1_Silent_p.I593I	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN	chromosome 3 open reading frame 20	715						cytoplasm|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						TGTTTGGGATCATCTCAAGCC	0.637000													4	28					0	0	1	0	0
PRKCI	5584	broad.mit.edu	37	3	170011198	170011198	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr3:170011198G>C	ENST00000295797.4	+	14	1624	c.1319G>C	c.(1318-1320)gGa>gCa	p.G440A		NM_002740.5	NP_002731.4	P41743	KPCI_HUMAN	protein kinase C, iota	440	Protein kinase.				anti-apoptosis|cellular membrane organization|cellular response to insulin stimulus|establishment or maintenance of epithelial cell apical/basal polarity|intracellular signal transduction|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|protein targeting to membrane|secretion|tight junction assembly|vesicle-mediated transport	cytosol|endosome|nucleus|polarisome	ATP binding|phospholipid binding|protein binding|protein kinase C activity|zinc ion binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	36	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			TGGGCTCTTGGAGTGCTCATG	0.393000													21	71					0	0	1	0	0
SORCS2	57537	broad.mit.edu	37	4	7714493	7714493	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr4:7714493G>C	ENST00000507866.2	+	15	2011	c.1902G>C	c.(1900-1902)tgG>tgC	p.W634C	SORCS2_ENST00000329016.9_Missense_Mutation_p.W462C	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2	634						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						GCTCCGATTGGGAGCTGGTCA	0.597000													18	20					0	0	1	0	0
TAS2R46	259292	broad.mit.edu	37	12	11214516	11214516	+	Silent	SNP	C	C	T			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr12:11214516C>T	ENST00000533467.1	-	1	377	c.378G>A	c.(376-378)aaG>aaA	p.K126K	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_176887.2	NP_795368.2	P59540	T2R46_HUMAN	taste receptor, type 2, member 46	126					sensory perception of taste	cilium membrane|integral to membrane	G-protein coupled receptor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(49;0.0344)	BRCA - Breast invasive adenocarcinoma(232;0.196)		GAACAACACTCTTAACTCTCC	0.348000													33	59					0	0	1	0	0
AR	367	broad.mit.edu	37	X	66905872	66905872	+	Missense_Mutation	SNP	G	G	A	rs137852569		TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chrX:66905872G>A	ENST00000374690.3	+	3	2313	c.1789G>A	c.(1789-1791)Gcc>Acc	p.A597T	AR_ENST00000513847.1_3'UTR|AR_ENST00000396044.3_Missense_Mutation_p.A597T|AR_ENST00000504326.1_Missense_Mutation_p.A597T|AR_ENST00000396043.2_Missense_Mutation_p.A65T	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	596	Interaction with HIPK3 (By similarity).		S -> G (in PAIS; high dissociation rate; associated with P-617 in a PAIS patient; partially restores DNA-binding activity of P-617 mutant receptors).|S -> T (in a patient with severe hypospadias).		cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)	GTACCTGTGCGCCAGCAGAAA	0.413000									Androgen Insensitivity Syndrome				3	33					0	0	1	0	0
SMG1	23049	broad.mit.edu	37	16	18887543	18887543	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr16:18887543T>A	ENST00000446231.2	-	13	2205	c.1793A>T	c.(1792-1794)aAg>aTg	p.K598M	SMG1_ENST00000565224.1_Missense_Mutation_p.K572M|SMG1_ENST00000389467.3_Missense_Mutation_p.K598M			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	598	Interaction with SMG8 and SMG9.				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						CACATGATTCTTAAAAGCCTC	0.373000													28	62					0	0	1	0	0
QRICH2	84074	broad.mit.edu	37	17	74287156	74287156	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr17:74287156C>G	ENST00000262765.5	-	4	3333	c.3154G>C	c.(3154-3156)Gat>Cat	p.D1052H		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	1052							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						TGCTCCTCATCCAGATCCTTC	0.527000													32	63					0	0	1	0	0
SLC27A2	11001	broad.mit.edu	37	15	50494767	50494767	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr15:50494767G>A	ENST00000267842.5	+	3	1004	c.772G>A	c.(772-774)Gat>Aat	p.D258N	SLC27A2_ENST00000544960.1_Missense_Mutation_p.D23N|SLC27A2_ENST00000380902.4_Intron	NM_003645.3	NP_003636.2	O14975	S27A2_HUMAN	solute carrier family 27 (fatty acid transporter), member 2	258					bile acid biosynthetic process|fatty acid alpha-oxidation	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity			NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_lung(180;0.00177)		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)		GAAGGCAGATGATGTCATCTA	0.428000													7	89					0	0	1	0	0
NSUN7	79730	broad.mit.edu	37	4	40752793	40752793	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr4:40752793C>A	ENST00000381782.2	+	2	578	c.83C>A	c.(82-84)tCc>tAc	p.S28Y	NSUN7_ENST00000316607.5_Missense_Mutation_p.S28Y	NM_024677.4	NP_078953.3			NOP2/Sun domain family, member 7											NS(1)|autonomic_ganglia(1)|cervix(1)|large_intestine(1)|lung(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						CTGCCTCTGTCCGGTGGGAAA	0.527000													54	52					3.68337e-26	3.91021e-26	1	1	0
COLEC12	81035	broad.mit.edu	37	18	346848	346848	+	Silent	SNP	C	C	T			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr18:346848C>T	ENST00000400256.3	-	5	981	c.774G>A	c.(772-774)ctG>ctA	p.L258L		NM_130386.2	NP_569057.1	Q5KU26	COL12_HUMAN	collectin sub-family member 12	258					carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity			cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				CTTTCTCCTTCAGCCAATCCG	0.512000													9	30					0	0	1	0	0
CGREF1	10669	broad.mit.edu	37	2	27324303	27324303	+	Missense_Mutation	SNP	C	C	T	rs113949888		TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr2:27324303C>T	ENST00000402394.1	-	6	1064	c.796G>A	c.(796-798)Gaa>Aaa	p.E266K	CGREF1_ENST00000260595.5_Missense_Mutation_p.E249K|CGREF1_ENST00000312734.4_Missense_Mutation_p.E266K|CGREF1_ENST00000452318.2_Intron|CGREF1_ENST00000405600.1_Missense_Mutation_p.E266K|CGREF1_ENST00000404694.3_Missense_Mutation_p.E388K|CGREF1_ENST00000402550.1_Intron	NM_006569.5	NP_006560.3	Q99674	CGRE1_HUMAN	cell growth regulator with EF-hand domain 1	258					cell adhesion|cell cycle arrest|negative regulation of cell proliferation|response to stress	extracellular region	calcium ion binding			kidney(1)|lung(4)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCATCTCCTTCAGCCTCTGCC	0.687000													78	29					0	0	1	0	0
MCF2L2	23101	broad.mit.edu	37	3	182923993	182923993	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr3:182923993G>C	ENST00000328913.3	-	24	3019	c.2722C>G	c.(2722-2724)Ctt>Gtt	p.L908V	MCF2L2_ENST00000473233.1_Missense_Mutation_p.L908V|MCF2L2_ENST00000468976.1_5'UTR	NM_015078.2	NP_055893.2	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	908	PH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			CGAATTGAAAGTGTCATCAGC	0.408000													8	95					0	0	1	0	0
MAP3K4	4216	broad.mit.edu	37	6	161469773	161469773	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr6:161469773C>G	ENST00000392142.4	+	3	617	c.469C>G	c.(469-471)Cgt>Ggt	p.R157G	MAP3K4_ENST00000446500.1_3'UTR|MAP3K4_ENST00000348824.7_Missense_Mutation_p.R157G|MAP3K4_ENST00000366919.2_Missense_Mutation_p.R157G|MAP3K4_ENST00000366920.2_Missense_Mutation_p.R157G	NM_005922.2	NP_005913.2	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	157			R -> H (in dbSNP:rs4559074).		activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		AGAGCGTGATCGTAAAAAAAA	0.403000													7	75					0	0	1	0	0
ATAD5	79915	broad.mit.edu	37	17	29221718	29221718	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr17:29221718G>C	ENST00000321990.4	+	22	5812	c.5434G>C	c.(5434-5436)Gaa>Caa	p.E1812Q		NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	1812					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				GAAGCTAAAAGAACAAGGAAA	0.303000													7	36					0	0	1	0	0
RGS6	9628	broad.mit.edu	37	14	72939626	72939626	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr14:72939626C>G	ENST00000553530.1	+	9	790	c.583C>G	c.(583-585)Caa>Gaa	p.Q195E	RGS6_ENST00000402788.2_Missense_Mutation_p.Q195E|RGS6_ENST00000406236.4_Missense_Mutation_p.Q195E|RGS6_ENST00000556437.1_Missense_Mutation_p.Q195E|RGS6_ENST00000355512.6_Missense_Mutation_p.Q195E|RGS6_ENST00000407322.4_Missense_Mutation_p.Q195E|RGS6_ENST00000434263.2_Missense_Mutation_p.Q126E|RGS6_ENST00000553690.1_3'UTR|RGS6_ENST00000553525.1_Missense_Mutation_p.Q195E|RGS6_ENST00000343854.6_Missense_Mutation_p.Q195E|RGS6_ENST00000404301.2_Missense_Mutation_p.Q195E|RGS6_ENST00000554782.1_Missense_Mutation_p.Q56E|RGS6_ENST00000555571.1_Missense_Mutation_p.Q195E	NM_001204417.1|NM_001204418.1|NM_001204420.1|NM_001204421.1|NM_001204422.1|NM_004296.5	NP_001191346.1|NP_001191347.1|NP_001191349.1|NP_001191350.1|NP_001191351.1|NP_004287.3	P49758	RGS6_HUMAN	regulator of G-protein signaling 6	195					G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		TTTGGATAGTCAAGAACGAGC	0.363000													11	219					0	0	1	0	0
HUS1B	135458	broad.mit.edu	37	6	656504	656504	+	Silent	SNP	C	C	T			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr6:656504C>T	ENST00000380907.2	-	1	459	c.441G>A	c.(439-441)ccG>ccA	p.P147P	EXOC2_ENST00000448181.3_Intron|EXOC2_ENST00000230449.4_Intron	NM_148959.3	NP_683762.2	Q8NHY5	HUS1B_HUMAN	HUS1 checkpoint homolog b (S. pombe)	147										endometrium(3)|large_intestine(1)|lung(7)	11	Ovarian(93;0.0733)	Breast(5;0.00139)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.041)|BRCA - Breast invasive adenocarcinoma(62;0.0965)		GCAGGCTGGGCGGCAGGCAGT	0.716000													15	24					0	0	1	0	0
TLN2	83660	broad.mit.edu	37	15	63017195	63017195	+	Silent	SNP	G	G	C			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr15:63017195G>C	ENST00000561311.1	+	26	3377	c.3147G>C	c.(3145-3147)ccG>ccC	p.P1049P	TLN2_ENST00000306829.6_Silent_p.P1049P			Q9Y4G6	TLN2_HUMAN	talin 2	1049	Ala-rich.				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						CTTGTGGTCCGATGGAAATCG	0.493000													16	24					0	0	1	0	0
A4GNT	51146	broad.mit.edu	37	3	137850006	137850006	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr3:137850006G>C	ENST00000236709.3	-	2	294	c.93C>G	c.(91-93)ttC>ttG	p.F31L		NM_016161.2	NP_057245.1	Q9UNA3	A4GCT_HUMAN	alpha-1,4-N-acetylglucosaminyltransferase	31					protein O-linked glycosylation	Golgi membrane|Golgi stack|integral to membrane|membrane fraction	acetylglucosaminyltransferase activity|galactosyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)	16						AAGGCAAACAGAAGAGGCAGC	0.562000													5	90					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179413442	179413442	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr2:179413442C>G	ENST00000589042.1	-	339	93135	c.92911G>C	c.(92911-92913)Gat>Cat	p.D30971H	TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D28403H|TTN_ENST00000342175.6_Missense_Mutation_p.D22098H|TTN_ENST00000359218.5_Missense_Mutation_p.D22031H|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D21906H|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D29330H	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	29330	Fibronectin type-III 126.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTATGGATATCAGCCCGAAGG	0.478000													5	73					0	0	1	0	0
TRIM16L	147166	broad.mit.edu	37	17	18638380	18638380	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr17:18638380G>T	ENST00000449552.2	+	7	2138	c.654G>T	c.(652-654)gaG>gaT	p.E218D	TRIM16L_ENST00000395672.2_Missense_Mutation_p.E218D|TRIM16L_ENST00000571708.1_Missense_Mutation_p.E218D|TRIM16L_ENST00000414850.2_Missense_Mutation_p.R131I|TRIM16L_ENST00000395671.4_Missense_Mutation_p.E218D|TRIM16L_ENST00000395902.3_Missense_Mutation_p.E272D|TRIM16L_ENST00000572555.1_Missense_Mutation_p.E218D			Q309B1	TR16L_HUMAN	tripartite motif containing 16-like	218	B30.2/SPRY.					cytoplasm				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)	9						TTGAGGTGGAGATCTTCGGGG	0.587000													42	2					1.41504e-22	1.49342e-22	1	1	0
CDKN2A	1029	broad.mit.edu	37	9	21971029	21971029	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr9:21971029C>T	ENST00000304494.5	-	2	599	c.329G>A	c.(328-330)tGg>tAg	p.W110*	CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.W110*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.W110*|CDKN2A_ENST00000579755.1_Silent_p.L124L|CDKN2A_ENST00000361570.3_Silent_p.L165L|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000530628.2_Silent_p.L124L|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.W110*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	110					cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(44)|p.W110*(13)|p.L165L(2)|p.H83fs*2(2)|p.D105fs*8(1)|p.0(1)|p.A68fs*3(1)|p.R107fs*33(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CAGACGGCCCCAGGCATCGCG	0.731000		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			26	7					0	0	1	0	0
ZBTB1	22890	broad.mit.edu	37	14	64988268	64988268	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr14:64988268A>T	ENST00000358738.3	+	2	437	c.46A>T	c.(46-48)Aac>Tac	p.N16Y	RP11-973N13.4_ENST00000554918.1_RNA|ZBTB1_ENST00000554015.1_Missense_Mutation_p.N16Y|ZBTB1_ENST00000394712.2_Missense_Mutation_p.N16Y	NM_014950.2	NP_055765.2	Q9Y2K1	ZBTB1_HUMAN	zinc finger and BTB domain containing 1	16					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	13		all_lung(585;0.000567)|Myeloproliferative disorder(585;0.0255)|all_neural(303;0.0294)		UCEC - Uterine corpus endometrioid carcinoma (185;0.0182)|all cancers(60;3.78e-43)|OV - Ovarian serous cystadenocarcinoma(108;1.22e-20)|BRCA - Breast invasive adenocarcinoma(234;6.75e-06)|KIRC - Kidney renal clear cell carcinoma(182;0.00269)|STAD - Stomach adenocarcinoma(64;0.012)		GCAGCTAAACAACCAAAGAGA	0.393000													26	42					0	0	1	0	0
DNTT	1791	broad.mit.edu	37	10	98064368	98064368	+	Silent	SNP	C	C	T			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr10:98064368C>T	ENST00000419175.1	+	1	284	c.114C>T	c.(112-114)ttC>ttT	p.F38F	RP11-35J23.1_ENST00000454484.2_RNA|DNTT_ENST00000371174.2_Silent_p.F38F	NM_001017520.1|NM_004088.3	NP_001017520.1|NP_004079.3	P04053	TDT_HUMAN	DNA nucleotidylexotransferase	38	BRCT.				DNA modification	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Colorectal(252;0.0815)|all_hematologic(284;0.224)		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)		TGGTCGTCTTCATTTTGGAGA	0.542000													13	12					0	0	1	0	0
VPS13B	157680	broad.mit.edu	37	8	100847876	100847876	+	Silent	SNP	A	A	G			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr8:100847876A>G	ENST00000358544.2	+	54	10038	c.9927A>G	c.(9925-9927)ttA>ttG	p.L3309L	VPS13B_ENST00000357162.2_Silent_p.L3284L|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3309					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CCAAAGACTTACTTCCAAGCC	0.428000													21	48					0	0	1	0	0
LBP	3929	broad.mit.edu	37	20	36993299	36993299	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr20:36993299G>A	ENST00000217407.2	+	8	975	c.814G>A	c.(814-816)Gaa>Aaa	p.E272K		NM_004139.3	NP_004130.2	P18428	LBP_HUMAN	lipopolysaccharide binding protein	272					acute-phase response|cellular defense response|cellular response to lipoteichoic acid|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|detection of molecule of bacterial origin|innate immune response|lipid transport|lipopolysaccharide transport|lipopolysaccharide-mediated signaling pathway|macrophage activation involved in immune response|negative regulation of tumor necrosis factor production|opsonization|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of macrophage activation|positive regulation of respiratory burst involved in inflammatory response|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production|Toll signaling pathway	extracellular space	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|lipid binding|lipopolysaccharide binding|lipoteichoic acid binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(1)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				CCTTCCTGAGGAACACAACAA	0.468000													45	84					0	0	1	0	0
SRRM4	84530	broad.mit.edu	37	12	119568510	119568510	+	Silent	SNP	G	G	A			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr12:119568510G>A	ENST00000267260.4	+	8	1030	c.642G>A	c.(640-642)ggG>ggA	p.G214G	SRRM4_ENST00000537597.1_3'UTR	NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	214	Ser-rich.				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						CTGAGGAAGGGCAGAAGTCCC	0.652000													5	4					0	0	1	0	0
HSPA4	3308	broad.mit.edu	37	5	132427045	132427045	+	Silent	SNP	T	T	C			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr5:132427045T>C	ENST00000304858.2	+	12	1828	c.1539T>C	c.(1537-1539)gaT>gaC	p.D513D		NM_002154.3	NP_002145.3	P34932	HSP74_HUMAN	heat shock 70kDa protein 4	513					cellular chaperone-mediated protein complex assembly|protein import into mitochondrial outer membrane|response to unfolded protein	cytoplasm|nucleus	ATP binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|stomach(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TGGAAACAGATCAGAATGCAA	0.438000													15	28					0	0	1	0	0
HSP90AB1	3326	broad.mit.edu	37	6	44216418	44216418	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr6:44216418C>G	ENST00000371554.1	+	2	266	c.52C>G	c.(52-54)Cag>Gag	p.Q18E	HSP90AB1_ENST00000353801.3_Missense_Mutation_p.Q18E|HSP90AB1_ENST00000371646.5_Missense_Mutation_p.Q18E			P08238	HS90B_HUMAN	heat shock protein 90kDa alpha (cytosolic), class B member 1	18					axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein	cytosol|melanosome	ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding	p.Q18*(2)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TTTTGCCTTTCAGGCAGAAAT	0.423000													15	115					0	0	1	0	0
RRN3	54700	broad.mit.edu	37	16	15180300	15180300	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr16:15180300G>C	ENST00000198767.6	-	4	347	c.264C>G	c.(262-264)atC>atG	p.I88M	RRN3_ENST00000564131.1_Missense_Mutation_p.I88M|RRN3_ENST00000327307.7_Missense_Mutation_p.I55M|PDXDC1_ENST00000535621.2_Intron|RRN3_ENST00000429751.2_Intron|RRN3_ENST00000563559.1_Missense_Mutation_p.I88M	NM_018427.3	NP_060897.3	Q9NYV6	RRN3_HUMAN	RRN3 RNA polymerase I transcription factor homolog (S. cerevisiae)	88					regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm				NS(2)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)	20						GCCAGTTGATGATCTGGTCAT	0.303000													4	73					0	0	1	0	0
CTDP1	9150	broad.mit.edu	37	18	77513778	77513778	+	Silent	SNP	C	C	T			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr18:77513778C>T	ENST00000299543.7	+	13	3021	c.2874C>T	c.(2872-2874)aaC>aaT	p.N958N	CTDP1_ENST00000075430.7_3'UTR	NM_001202504.1|NM_004715.4	NP_001189433.1|NP_004706.3	Q9Y5B0	CTDP1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1	958					positive regulation of viral transcription|protein dephosphorylation|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	CTD phosphatase activity|DNA-directed RNA polymerase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(2)|urinary_tract(1)	35		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)		CGGAGCTCAACGACCTCATGT	0.687000													9	13					0	0	1	0	0
CCDC63	160762	broad.mit.edu	37	12	111318961	111318961	+	Silent	SNP	G	G	A			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr12:111318961G>A	ENST00000308208.5	+	7	956	c.714G>A	c.(712-714)caG>caA	p.Q238Q	CCDC63_ENST00000545036.1_Silent_p.Q198Q|CCDC63_ENST00000552694.1_Silent_p.Q159Q|CCDC63_ENST00000550317.1_3'UTR	NM_152591.1	NP_689804.1	Q8NA47	CCD63_HUMAN	coiled-coil domain containing 63	238										NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1)	39						AAGACCGCCAGAAGAAGGACA	0.557000													3	21					0	0	1	0	0
ILKAP	80895	broad.mit.edu	37	2	239079271	239079271	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr2:239079271C>T	ENST00000254654.3	-	12	1260	c.1085G>A	c.(1084-1086)cGc>cAc	p.R362H		NM_030768.2	NP_110395.1	Q9H0C8	ILKAP_HUMAN	integrin-linked kinase-associated serine/threonine phosphatase	362	PP2C-like.					cytoplasm|protein serine/threonine phosphatase complex	metal ion binding|protein binding			endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_lung(227;0.152)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;5.49e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.93e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.82e-08)|BRCA - Breast invasive adenocarcinoma(100;0.00012)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0163)		TGCTTCGTAGCGGGCGTCGGC	0.612000													20	27					0	0	1	0	0
APC2	10297	broad.mit.edu	37	19	1462153	1462153	+	Silent	SNP	C	C	T			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr19:1462153C>T	ENST00000535453.1	+	13	3543	c.1830C>T	c.(1828-1830)ctC>ctT	p.L610L	CTB-25B13.12_ENST00000588225.1_RNA|APC2_ENST00000233607.2_Silent_p.L610L|APC2_ENST00000238483.4_Silent_p.L336L|C19orf25_ENST00000588427.1_Intron			O95996	APC2_HUMAN	adenomatosis polyposis coli 2	610					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway	actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm	beta-catenin binding|microtubule binding			breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGTCCAGCCTCGTCGCCACCC	0.692000													4	5					0	0	1	0	0
TOR1AIP2	163590	broad.mit.edu	37	1	179815318	179815318	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr1:179815318G>C	ENST00000367612.3	-	6	1688	c.1301C>G	c.(1300-1302)tCc>tGc	p.S434C		NM_001199260.1|NM_145034.4	NP_001186189.1|NP_659471.1	Q8NFQ8	TOIP2_HUMAN	torsin A interacting protein 2	434						endoplasmic reticulum membrane|integral to membrane	protein binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(10)|ovary(1)|skin(2)	18						GTGGTTGAAGGAGGTGGGAGT	0.502000													5	61					0	0	1	0	0
MYO15A	51168	broad.mit.edu	37	17	18023707	18023707	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr17:18023707C>G	ENST00000205890.5	+	2	1931	c.1593C>G	c.(1591-1593)ttC>ttG	p.F531L		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	531	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					GCCACCCTTTCTGGGGCTTCC	0.706000													4	9					0	0	1	0	0
PLB1	151056	broad.mit.edu	37	2	28812554	28812554	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr2:28812554G>A	ENST00000422425.2	+	27	1944	c.1900G>A	c.(1900-1902)Gac>Aac	p.D634N	PLB1_ENST00000329020.6_Missense_Mutation_p.D333N|PLB1_ENST00000327757.5_Missense_Mutation_p.D645N	NM_001170585.1	NP_001164056.1	Q6P1J6	PLB1_HUMAN	phospholipase B1	645	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity	p.D634N(1)|p.D645N(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					AGGATTGCCTGACAACTCTTT	0.498000													7	72					0	0	1	0	0
ARHGAP5	394	broad.mit.edu	37	14	32560615	32560615	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr14:32560615A>G	ENST00000345122.3	+	2	1055	c.740A>G	c.(739-741)gAt>gGt	p.D247G	ARHGAP5_ENST00000556611.1_Missense_Mutation_p.D247G|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.D247G|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.D247G	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	247					cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		CAAATGTTGGATAAAACTCGT	0.343000													55	92					0	0	1	0	0
CSF2RB	1439	broad.mit.edu	37	22	37334191	37334191	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr22:37334191A>T	ENST00000262825.5	+	14	2576	c.2359A>T	c.(2359-2361)Agg>Tgg	p.R787W	CSF2RB_ENST00000406230.1_Missense_Mutation_p.R787W|CSF2RB_ENST00000403662.3_Missense_Mutation_p.R781W|CSF2RB_ENST00000536485.1_Missense_Mutation_p.R728W	NM_000395.2	NP_000386.1	P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	781					respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	CAGGTCACCAAGGAACAATCC	0.652000													15	32					0	0	1	0	0
PTGDR	5729	broad.mit.edu	37	14	52741596	52741596	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr14:52741596C>T	ENST00000306051.2	+	2	1096	c.994C>T	c.(994-996)Cgg>Tgg	p.R332W	PTGDR_ENST00000553372.1_3'UTR	NM_000953.2	NP_000944.1	Q13258	PD2R_HUMAN	prostaglandin D2 receptor (DP)	332			R -> Q (in dbSNP:rs41312506).			integral to membrane|plasma membrane	prostaglandin D receptor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Breast(41;0.0639)|all_epithelial(31;0.0887)				Nedocromil(DB00716)	TCCAGTATTTCGGATATTTTT	0.413000													11	13					0	0	1	0	0
DNAJA3	9093	broad.mit.edu	37	16	4491549	4491549	+	Missense_Mutation	SNP	C	C	G	rs141103865		TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr16:4491549C>G	ENST00000262375.6	+	4	680	c.603C>G	c.(601-603)ttC>ttG	p.F201L	DNAJA3_ENST00000355296.4_Missense_Mutation_p.F201L|DNAJA3_ENST00000431375.2_Missense_Mutation_p.F48L	NM_005147.5	NP_005138.3	Q96EY1	DNJA3_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 3	201					activation of caspase activity|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of cell proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein kinase activity|neuromuscular junction development|positive regulation of apoptosis|positive regulation of protein ubiquitination|protein folding|protein stabilization|response to heat|response to interferon-gamma	cytosol|mitochondrial matrix|mitochondrial nucleoid|nucleus	ATP binding|heat shock protein binding|interferon-gamma receptor binding|metal ion binding|NF-kappaB binding|protein kinase binding			NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|upper_aerodigestive_tract(2)	15						TTGGAGATTTCCAGACCGTGT	0.443000													14	40					0	0	1	0	0
ZNF91	7644	broad.mit.edu	37	19	23544721	23544721	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr19:23544721C>G	ENST00000300619.7	-	4	1265	c.1060G>C	c.(1060-1062)Gaa>Caa	p.E354Q	ZNF91_ENST00000397082.2_Missense_Mutation_p.E322Q|ZNF91_ENST00000599743.1_Intron	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	354						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				TTGCCACATTCTTTACATTTG	0.368000													14	32					0	0	1	0	0
GRIN2B	2904	broad.mit.edu	37	12	13764753	13764753	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr12:13764753C>T	ENST00000279593.3	-	8	1895	c.1686G>A	c.(1684-1686)atG>atA	p.M562I		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	562					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GCATCACAAACATCATCACCC	0.478000													7	67					0	0	1	0	0
NAGPA	51172	broad.mit.edu	37	16	5081854	5081854	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr16:5081854C>T	ENST00000312251.3	-	3	593	c.574G>A	c.(574-576)Gag>Aag	p.E192K	NAGPA_ENST00000381955.3_Missense_Mutation_p.E192K|RP11-165E7.1_ENST00000588778.1_RNA|NAGPA_ENST00000564922.1_5'UTR	NM_016256.3	NP_057340.2	Q9UK23	NAGPA_HUMAN	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase	192					carbohydrate metabolic process|lysosome organization|protein modification process|protein targeting to lysosome	Golgi cisterna membrane|integral to membrane	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase activity			endometrium(4)|large_intestine(4)|lung(3)|urinary_tract(1)	12					N-Acetyl-D-glucosamine(DB00141)	AATGGGTTCTCAGTGTCCAGC	0.557000													8	93					0	0	1	0	0
SETBP1	26040	broad.mit.edu	37	18	42532870	42532870	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr18:42532870C>T	ENST00000282030.5	+	4	3861	c.3565C>T	c.(3565-3567)Cgg>Tgg	p.R1189W		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	1189						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		CCTGAGCGAGCGGCTGAGTAG	0.552000									Schinzel-Giedion syndrome				3	43					0	0	1	0	0
ZAK	51776	broad.mit.edu	37	2	174131080	174131080	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr2:174131080G>C	ENST00000375213.3	+	20	2083	c.2005G>C	c.(2005-2007)Gag>Cag	p.E669Q	MLK7-AS1_ENST00000422703.1_RNA|MLTK_ENST00000409176.2_Missense_Mutation_p.E669Q|MLK7-AS1_ENST00000423106.2_RNA	NM_016653.2	NP_057737.2																					CACCTCTTCAGAGAGGGGTCG	0.458000													17	61					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100686712	100686712	+	Silent	SNP	G	G	A			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr7:100686712G>A	ENST00000306151.4	+	3	12079	c.12015G>A	c.(12013-12015)gtG>gtA	p.V4005V		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	4005						extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TCACATATGTGACCATGTCTA	0.488000													11	318					0	0	1	0	0
LAMA4	3910	broad.mit.edu	37	6	112430786	112430786	+	Splice_Site	SNP	C	C	G			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr6:112430786C>G	ENST00000230538.7	-	39	5724		c.e39-1		LAMA4_ENST00000389463.4_Splice_Site|LAMA4_ENST00000522006.1_Splice_Site|LAMA4_ENST00000424408.2_Splice_Site	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4						cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		AGTAGAGATTCTGAAAAGAGC	0.418000													15	19					0	0	1	0	0
TDP1	55775	broad.mit.edu	37	14	90446954	90446954	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr14:90446954G>C	ENST00000335725.4	+	8	1112	c.862G>C	c.(862-864)Gac>Cac	p.D288H	TDP1_ENST00000357382.3_Missense_Mutation_p.D49H|TDP1_ENST00000393454.2_Missense_Mutation_p.D288H|TDP1_ENST00000393452.3_Missense_Mutation_p.D288H|TDP1_ENST00000555880.1_Missense_Mutation_p.D288H	NM_018319.3	NP_060789.2	Q9NUW8	TYDP1_HUMAN	tyrosyl-DNA phosphodiesterase 1	288					cell death|double-strand break repair|single strand break repair	cytoplasm|nucleus	3'-tyrosyl-DNA phosphodiesterase activity|double-stranded DNA binding|exonuclease activity|protein binding|single-stranded DNA binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|urinary_tract(1)	25		all_cancers(154;0.185)		COAD - Colon adenocarcinoma(157;0.23)		CATCCATGCTGACTGGCACCA	0.453000								Repair of DNA-protein crosslinks					8	42					0	0	1	0	0
WDR72	256764	broad.mit.edu	37	15	53994481	53994481	+	Silent	SNP	G	G	C			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr15:53994481G>C	ENST00000396328.1	-	12	1658	c.1419C>G	c.(1417-1419)ctC>ctG	p.L473L	WDR72_ENST00000360509.5_Silent_p.L473L|WDR72_ENST00000557913.1_Silent_p.L470L|WDR72_ENST00000559418.1_Silent_p.L483L	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	473										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)		ATTTCGAAGAGAGACCATGTG	0.378000													6	98					0	0	1	0	0
SETX	23064	broad.mit.edu	37	9	135204799	135204799	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr9:135204799C>G	ENST00000372169.2	-	10	2368	c.2186G>C	c.(2185-2187)aGa>aCa	p.R729T	SETX_ENST00000224140.5_Missense_Mutation_p.R729T|SETX_ENST00000393220.1_Missense_Mutation_p.R729T			Q7Z333	SETX_HUMAN	senataxin	729					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		TGGACCATTTCTTGAAGTACA	0.363000													9	106					0	0	1	0	0
ENAM	10117	broad.mit.edu	37	4	71509397	71509397	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr4:71509397G>A	ENST00000396073.3	+	9	2535	c.2254G>A	c.(2254-2256)Gct>Act	p.A752T	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	752					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel	p.A752T(1)		haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			TAATAATGCCGCTGGACCAGA	0.453000													27	38					0	0	1	0	0
KIAA1549	57670	broad.mit.edu	37	7	138602191	138602191	+	Silent	SNP	G	G	A			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr7:138602191G>A	ENST00000440172.1	-	2	2229	c.2181C>T	c.(2179-2181)ctC>ctT	p.L727L	KIAA1549_ENST00000242365.4_Silent_p.L677L|KIAA1549_ENST00000422774.1_Silent_p.L727L	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	727	Ser-rich.					integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						CAACAAACTCGAGAGAATCAG	0.468000			O	BRAF	pilocytic astrocytoma								4	26					0	0	1	0	0
ZNF217	7764	broad.mit.edu	37	20	52198233	52198233	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr20:52198233G>T	ENST00000371471.2	-	2	1558	c.1133C>A	c.(1132-1134)tCc>tAc	p.S378Y	ZNF217_ENST00000302342.3_Missense_Mutation_p.S378Y			O75362	ZN217_HUMAN	zinc finger protein 217	378					negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			GCCGCACTCGGAGCAGTGAGT	0.607000													6	57					0.00198382	0.00200598	1	1	0
AHNAK	79026	broad.mit.edu	37	11	62297223	62297223	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr11:62297223C>G	ENST00000378024.4	-	5	4940	c.4666G>C	c.(4666-4668)Gaa>Caa	p.E1556Q	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1556					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TCTGGAGCTTCAAGATTCACA	0.458000													54	109					0	0	1	0	0
SYT9	143425	broad.mit.edu	37	11	7335110	7335110	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr11:7335110C>G	ENST00000318881.6	+	3	1219	c.982C>G	c.(982-984)Cta>Gta	p.L328V	SYT9_ENST00000396716.2_Missense_Mutation_p.L296V	NM_175733.3	NP_783860.1	Q86SS6	SYT9_HUMAN	synaptotagmin IX	328						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		GGATCACTTCCTAGACTTGGC	0.478000													46	77					0	0	1	0	0
CD40	958	broad.mit.edu	37	20	44757575	44757575	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr20:44757575G>C	ENST00000372285.3	+	9	802	c.730G>C	c.(730-732)Ggc>Cgc	p.G244R	CD40_ENST00000489304.1_3'UTR|CD40_ENST00000372276.3_3'UTR	NM_001250.4	NP_001241.1	P25942	TNR5_HUMAN	CD40 molecule, TNF receptor superfamily member 5	244					B cell proliferation|cellular response to mechanical stimulus|inflammatory response|platelet activation|positive regulation of endothelial cell apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein complex assembly	CD40 receptor complex|extracellular region	enzyme binding|receptor activity			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10		Myeloproliferative disorder(115;0.0122)			Simvastatin(DB00641)	CGATCTTCCTGGCTCCAACAC	0.597000									Immune Deficiency with Hyper-IgM		OREG0025991	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	28					0	0	1	0	0
TMEM177	80775	broad.mit.edu	37	2	120439145	120439145	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr2:120439145C>G	ENST00000424086.1	+	2	1189	c.716C>G	c.(715-717)tCt>tGt	p.S239C	TMEM177_ENST00000496203.1_Intron|TMEM177_ENST00000272521.6_Missense_Mutation_p.S239C|TMEM177_ENST00000401466.1_Missense_Mutation_p.S239C|TMEM177_ENST00000409951.1_Intron	NM_001105198.1	NP_001098668.1	Q53S58	TM177_HUMAN	transmembrane protein 177	239						integral to membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	13	Colorectal(110;0.196)					GCCTCCCTCTCTGCAGCCTAT	0.607000													16	33					0	0	1	0	0
ARHGAP30	257106	broad.mit.edu	37	1	161021182	161021182	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr1:161021182C>G	ENST00000368013.3	-	10	1662	c.1342G>C	c.(1342-1344)Gag>Cag	p.E448Q	ARHGAP30_ENST00000368015.1_Missense_Mutation_p.E271Q|ARHGAP30_ENST00000368016.3_Missense_Mutation_p.E448Q	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	448					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			GCAGGGCACTCAAGGCCACGG	0.627000													6	49					0	0	1	0	0
PXDNL	137902	broad.mit.edu	37	8	52320812	52320812	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr8:52320812C>G	ENST00000356297.4	-	17	3472	c.3372G>C	c.(3370-3372)caG>caC	p.Q1124H	PXDNL_ENST00000543296.1_Missense_Mutation_p.Q1124H	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	1124					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				AGAAGAGCCTCTGGGTCAGCT	0.577000													11	64					0	0	1	0	0
LCP1	3936	broad.mit.edu	37	13	46732751	46732751	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr13:46732751C>G	ENST00000398576.2	-	7	652	c.264G>C	c.(262-264)aaG>aaC	p.K88N	LCP1_ENST00000323076.2_Missense_Mutation_p.K88N			P13796	PLSL_HUMAN	lymphocyte cytosolic protein 1 (L-plastin)	88					regulation of intracellular protein transport|T cell activation involved in immune response	cell junction|cytosol|ruffle membrane	calcium ion binding			breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|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;5.39e-05)		TTCTAAAGGTCTTGGCAACAT	0.398000			T	BCL6	NHL								13	38					0	0	1	0	0
KIAA1429	25962	broad.mit.edu	37	8	95550492	95550492	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr8:95550492C>G	ENST00000297591.5	-	3	337	c.262G>C	c.(262-264)Gga>Cga	p.G88R	KIAA1429_ENST00000437199.1_Missense_Mutation_p.G88R|KIAA1429_ENST00000421249.2_Missense_Mutation_p.G88R	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	88					mRNA processing|RNA splicing	nucleus				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			ACATACCTTCCCAACCTATCG	0.368000													21	38					0	0	1	0	0
XCR1	2829	broad.mit.edu	37	3	46062824	46062824	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr3:46062824C>T	ENST00000309285.3	-	2	972	c.616G>A	c.(616-618)Gtg>Atg	p.V206M	XCR1_ENST00000542109.1_Missense_Mutation_p.V206M	NM_001024644.1	NP_001019815.1	P46094	XCR1_HUMAN	chemokine (C motif) receptor 1	206					chemotaxis|G-protein signaling, coupled to cyclic nucleotide second messenger|inflammatory response	integral to plasma membrane	chemokine receptor activity			NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(2)	14				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		AGGATCTCCACGTAGCAGAAC	0.587000													9	12					0	0	1	0	0
NID2	22795	broad.mit.edu	37	14	52534779	52534779	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr14:52534779C>A	ENST00000216286.5	-	2	330	c.331G>T	c.(331-333)Gcg>Tcg	p.A111S	NID2_ENST00000541773.1_Missense_Mutation_p.A58S	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	111	NIDO.					basement membrane	calcium ion binding|collagen binding			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					TCGATGTCCGCCAGAAAAGGG	0.642000													3	8					0.115264	0.115904	1	1	0
RNF213	57674	broad.mit.edu	37	17	78321903	78321903	+	Silent	SNP	G	G	A			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr17:78321903G>A	ENST00000582970.1	+	29	9911	c.9768G>A	c.(9766-9768)tcG>tcA	p.S3256S	RNF213_ENST00000336301.6_Silent_p.S1329S|RNF213_ENST00000508628.2_Silent_p.S3305S	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			AGGCCAAATCGATCCTGCTGA	0.642000													37	6					0	0	1	0	0
TNC	3371	broad.mit.edu	37	9	117797486	117797486	+	Silent	SNP	G	G	C			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr9:117797486G>C	ENST00000350763.4	-	22	6195	c.5784C>G	c.(5782-5784)gtC>gtG	p.V1928V	TNC_ENST00000423613.2_Silent_p.V1655V|TNC_ENST00000346706.3_Silent_p.V1382V|TNC_ENST00000542877.1_Silent_p.V1565V|TNC_ENST00000345230.3_Silent_p.V1291V|TNC_ENST00000341037.4_Silent_p.V1746V|TNC_ENST00000340094.3_Silent_p.V1564V|TNC_ENST00000537320.1_Silent_p.V1291V|TNC_ENST00000535648.1_Silent_p.V1473V	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1928	Fibronectin type-III 15.				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						AAAATACCTTGACTGTGCCAT	0.468000													8	73					0	0	1	0	0
MYO1A	4640	broad.mit.edu	37	12	57430774	57430774	+	Silent	SNP	C	C	T			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr12:57430774C>T	ENST00000442789.2	-	21	2444	c.2157G>A	c.(2155-2157)ctG>ctA	p.L719L	MYO1A_ENST00000544473.1_Silent_p.L557L|MYO1A_ENST00000300119.3_Silent_p.L719L	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	719	IQ 1.				sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						TCTTTCGCATCAGTTGGTAGT	0.522000													37	64					0	0	1	0	0
ZNF423	23090	broad.mit.edu	37	16	49559375	49559375	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr16:49559375C>T	ENST00000561648.1	-	6	3661	c.3608G>A	c.(3607-3609)tGc>tAc	p.C1203Y	ZNF423_ENST00000535559.1_Missense_Mutation_p.C1086Y|ZNF423_ENST00000563137.2_Missense_Mutation_p.C1143Y|ZNF423_ENST00000262383.2_Missense_Mutation_p.C1203Y|ZNF423_ENST00000562871.1_Missense_Mutation_p.C1143Y|ZNF423_ENST00000562520.1_Missense_Mutation_p.C1143Y|ZNF423_ENST00000567169.1_Missense_Mutation_p.C1086Y	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	1203					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				CATCTGGTTGCACAGCTTACA	0.572000													4	22					0	0	1	0	0
TSPYL4	23270	broad.mit.edu	37	6	116574228	116574228	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr6:116574228T>C	ENST00000420283.1	-	1	1033	c.944A>G	c.(943-945)tAt>tGt	p.Y315C		NM_021648.4	NP_067680.3	Q9UJ04	TSYL4_HUMAN	TSPY-like 4	315					nucleosome assembly	nucleus				endometrium(2)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(2)	11		all_cancers(87;0.0144)|all_epithelial(87;0.021)|Colorectal(196;0.234)		all cancers(137;0.045)|OV - Ovarian serous cystadenocarcinoma(136;0.0666)|GBM - Glioblastoma multiforme(226;0.095)|Epithelial(106;0.125)		TCTGCGTTCATATTCCTTGAC	0.552000													17	29					0	0	1	0	0
C16orf62	57020	broad.mit.edu	37	16	19663399	19663399	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr16:19663399G>T	ENST00000438132.3	+	26	2523	c.2475G>T	c.(2473-2475)caG>caT	p.Q825H	C16orf62_ENST00000251143.5_Missense_Mutation_p.Q736H|C16orf62_ENST00000544275.1_3'UTR|C16orf62_ENST00000543152.1_Missense_Mutation_p.Q485H|C16orf62_ENST00000542263.1_Missense_Mutation_p.Q732H|C16orf62_ENST00000448695.1_Missense_Mutation_p.Q586H|C16orf62_ENST00000417362.2_Missense_Mutation_p.Q643H	NM_020314.5	NP_064710.4	Q7Z3J2	CP062_HUMAN	chromosome 16 open reading frame 62	736						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						TGGCCAACCAGTGCCTCTCCC	0.542000													7	6					5.18039e-06	5.29746e-06	1	1	0
LGALS14	56891	broad.mit.edu	37	19	40196569	40196569	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr19:40196569C>T	ENST00000360675.3	+	2	288	c.22C>T	c.(22-24)Cat>Tat	p.H8Y	LGALS14_ENST00000392052.3_Intron	NM_203471.1	NP_982297.1	Q8TCE9	PPL13_HUMAN	lectin, galactoside-binding, soluble, 14	0	Galectin.					nucleus	sugar binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|stomach(2)	14	all_cancers(60;4.39e-06)|all_lung(34;6.76e-08)|Lung NSC(34;7.98e-08)|Ovarian(47;0.06)	Myeloproliferative disorder(2;0.0741)	Epithelial(26;1.08e-24)|OV - Ovarian serous cystadenocarcinoma(5;1.92e-24)|all cancers(26;4.12e-22)			CCACAGGCTTCATTTGTGCAA	0.478000													8	85					0	0	1	0	0
KAT2B	8850	broad.mit.edu	37	3	20181763	20181763	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr3:20181763C>G	ENST00000263754.4	+	13	2366	c.1911C>G	c.(1909-1911)atC>atG	p.I637M		NM_003884.4	NP_003875.3	Q92831	KAT2B_HUMAN	K(lysine) acetyltransferase 2B	637	N-acetyltransferase.				cell cycle arrest|cellular response to insulin stimulus|chromatin remodeling|histone H3 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|negative regulation of cell proliferation|transcription initiation from RNA polymerase I promoter	Ada2/Gcn5/Ada3 transcription activator complex|chromatin remodeling complex|PCAF complex	cyclin-dependent protein kinase inhibitor activity|histone acetyltransferase activity|histone deacetylase binding|protein kinase binding|transcription coactivator activity|transcription factor binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	40						TTGGCTATATCAAGGATTATG	0.353000													5	44					0	0	1	0	0
ZNF595	152687	broad.mit.edu	37	4	59346	59346	+	Silent	SNP	G	G	A			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr4:59346G>A	ENST00000509152.2	+	2	212	c.27G>A	c.(25-27)gtG>gtA	p.V9V	ZNF595_ENST00000526473.2_Silent_p.V9V|ZNF595_ENST00000339368.6_3'UTR					zinc finger protein 595											endometrium(5)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)	20		all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173)		TCAGGGATGTGGCCATAGAAT	0.413000													53	173					0	0	1	0	0
LOC101927209	101927209	broad.mit.edu	37	1	142713152	142713152	+	RNA	SNP	T	T	G	rs142135372	by1000genomes	TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr1:142713152T>G	ENST00000369381.2	-	0	1453																											TGCTGTTCAATGCACGGATTT	0.368000													4	65					0	0	1	0	0
WNK4	65266	broad.mit.edu	37	17	40932738	40932738	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr17:40932738G>C	ENST00000246914.5	+	1	43	c.22G>C	c.(22-24)Gag>Cag	p.E8Q		NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	8					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		CCCGGCCACGGAGACCACCGT	0.711000													9	6					0	0	1	0	0
POLR2A	5430	broad.mit.edu	37	17	7404130	7404130	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr17:7404130G>A	ENST00000322644.6	+	11	2243	c.1844G>A	c.(1843-1845)aGt>aAt	p.S615N		NM_000937.4	NP_000928.1	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	615					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				GATGAAGACAGTGGCCCTTAC	0.547000													98	7					0	0	1	0	0
NKX2-2	4821	broad.mit.edu	37	20	21494272	21494272	+	Silent	SNP	G	G	A			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr20:21494272G>A	ENST00000377142.4	-	1	392	c.36C>T	c.(34-36)gtC>gtT	p.V12V		NM_002509.3	NP_002500.1	O95096	NKX22_HUMAN	NK2 homeobox 2	12					brain development|positive regulation of sequence-specific DNA binding transcription factor activity	nucleus	chromatin binding|core promoter proximal region DNA binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						AGATGTCCTTGACCGAAAACC	0.572000													6	51					0	0	1	0	0
SPDYE3	441272	broad.mit.edu	37	7	99917593	99917593	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr7:99917593G>C	ENST00000332397.6	+	10	1814	c.1630G>C	c.(1630-1632)Gat>Cat	p.D544H	SPDYE3_ENST00000437326.2_Missense_Mutation_p.D167H	NM_001004351.4	NP_001004351.3	A6NKU9	SPDE3_HUMAN	speedy/RINGO cell cycle regulator family member E3	544								p.D544N(1)		endometrium(10)|kidney(1)|lung(8)|urinary_tract(1)	20						GTGGGCGCGAGATCGCGCCCA	0.582000													9	59					0	0	1	0	0
TARBP2	6895	broad.mit.edu	37	12	53899914	53899914	+	Silent	SNP	C	C	T			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr12:53899914C>T	ENST00000266987.2	+	9	1566	c.1083C>T	c.(1081-1083)atC>atT	p.I361I	TARBP2_ENST00000394357.2_Silent_p.I340I|TARBP2_ENST00000552857.1_3'UTR|TARBP2_ENST00000456234.2_Silent_p.I340I	NM_134323.1	NP_599150.1	Q15633	TRBP2_HUMAN	TAR (HIV-1) RNA binding protein 2	361	DRBM 3.|Sufficient for interaction with DICER1.|Sufficient for interaction with PRKRA.				miRNA loading onto RISC involved in gene silencing by miRNA|negative regulation of defense response to virus by host|negative regulation of protein kinase activity|positive regulation of viral genome replication|pre-miRNA processing|production of siRNA involved in RNA interference|regulation of transcription from RNA polymerase II promoter|regulation of translation|regulation of viral transcription|targeting of mRNA for destruction involved in RNA interference	cytosol|nucleus|perinuclear region of cytoplasm|RNA-induced silencing complex	double-stranded RNA binding|protein homodimerization activity|siRNA binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)	10						ACCTCAAGATCATGGCAGGCA	0.617000													7	21					0	0	1	0	0
MRAP	56246	broad.mit.edu	37	21	33686872	33686872	+	Missense_Mutation	SNP	G	G	T	rs150983600		TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr21:33686872G>T	ENST00000399786.3	+	5	404	c.217G>T	c.(217-219)Gat>Tat	p.D73Y	URB1_ENST00000382751.3_3'UTR|MRAP_ENST00000339944.4_Missense_Mutation_p.D73Y	NM_206898.1	NP_996781.1	Q8TCY5	MRAP_HUMAN	melanocortin 2 receptor accessory protein	0					positive regulation of cAMP biosynthetic process|protein localization at cell surface	endoplasmic reticulum|integral to membrane|perinuclear region of cytoplasm|plasma membrane	corticotropin hormone receptor binding|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding|type 5 melanocortin receptor binding			endometrium(1)|large_intestine(2)|lung(3)	6						CTTTAACACAGATGAATCTCT	0.448000													23	28					3.28513e-13	3.41729e-13	1	1	0
SF3A1	10291	broad.mit.edu	37	22	30730681	30730681	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr22:30730681T>C	ENST00000439242.1	-	16	2220	c.2089A>G	c.(2089-2091)Atc>Gtc	p.I697V	SF3A1_ENST00000215793.7_Missense_Mutation_p.I762V	NM_001005409.1	NP_001005409.1	Q15459	SF3A1_HUMAN	splicing factor 3a, subunit 1, 120kDa	762					nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|U2-type spliceosomal complex	protein binding|RNA binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1)	29						TTGATGAAGATACCCTGGAAA	0.537000													26	46					0	0	1	0	0
ZFYVE9	9372	broad.mit.edu	37	1	52759159	52759159	+	Silent	SNP	C	C	T			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr1:52759159C>T	ENST00000287727.3	+	11	3232	c.3060C>T	c.(3058-3060)ttC>ttT	p.F1020F	ZFYVE9_ENST00000371591.1_Silent_p.F1020F|ZFYVE9_ENST00000357206.2_Silent_p.F961F	NM_004799.2	NP_004790.2	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	1020					endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						ATTCCTTCTTCAGTCAAAGTT	0.353000													15	25					0	0	1	0	0
TMPRSS3	64699	broad.mit.edu	37	21	43816189	43816189	+	Silent	SNP	C	C	T			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr21:43816189C>T	ENST00000380399.1	-	1	766	c.63G>A	c.(61-63)cgG>cgA	p.R21R	TMPRSS3_ENST00000398397.3_5'UTR|TMPRSS3_ENST00000291532.3_5'UTR			P57727	TMPS3_HUMAN	transmembrane protease, serine 3	0					cellular sodium ion homeostasis|proteolysis	endoplasmic reticulum membrane|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity|sodium channel regulator activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1)	13						CCCGAGCCGTCCGGTGCCCGG	0.527000													11	16					0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	30935350	30935350	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr19:30935350G>A	ENST00000355537.3	+	2	1028	c.881G>A	c.(880-882)cGc>cAc	p.R294H		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	294					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CGCCACATCCGCATCTTGCAC	0.647000													33	45					0	0	1	0	0
CACNA1G	8913	broad.mit.edu	37	17	48678415	48678415	+	Silent	SNP	C	C	T			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr17:48678415C>T	ENST00000352832.5	+	18	4098	c.3726C>T	c.(3724-3726)ttC>ttT	p.F1242F	CACNA1G_ENST00000416767.4_Silent_p.F1265F|CACNA1G_ENST00000515411.1_Silent_p.F1265F|CACNA1G_ENST00000515165.1_Silent_p.F1265F|CACNA1G_ENST00000515765.1_Silent_p.F1265F|CACNA1G_ENST00000514717.1_Silent_p.F1242F|CACNA1G_ENST00000358244.5_Silent_p.F1242F|CACNA1G_ENST00000514079.1_Silent_p.F1265F|CACNA1G_ENST00000513964.1_Silent_p.F1265F|CACNA1G_ENST00000505165.1_Silent_p.F1265F|CACNA1G_ENST00000359106.5_Silent_p.F1265F|CACNA1G_ENST00000513689.2_Silent_p.F1265F|CACNA1G_ENST00000510366.1_Silent_p.F1265F|CACNA1G_ENST00000510115.1_Silent_p.F1242F|CACNA1G_ENST00000503485.1_Silent_p.F1265F|CACNA1G_ENST00000507510.2_Silent_p.F1265F|CACNA1G_ENST00000502264.1_Silent_p.F1242F|CACNA1G_ENST00000512389.1_Silent_p.F1265F|CACNA1G_ENST00000507609.1_Silent_p.F1265F|CACNA1G_ENST00000507336.1_Silent_p.F1265F|CACNA1G_ENST00000360761.4_Silent_p.F1242F|CACNA1G_ENST00000442258.2_Silent_p.F1242F|CACNA1G_ENST00000507896.1_Silent_p.F1265F|CACNA1G_ENST00000514181.1_Silent_p.F1265F|CACNA1G_ENST00000354983.4_Silent_p.F1242F|CACNA1G_ENST00000429973.2_Silent_p.F1265F	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1265					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	TGGGCAGGTTCCGCCTCCTGT	0.642000													3	47					0	0	1	0	0
HELZ	9931	broad.mit.edu	37	17	65119122	65119122	+	Silent	SNP	G	G	C			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr17:65119122G>C	ENST00000358691.5	-	26	3760	c.3594C>G	c.(3592-3594)gtC>gtG	p.V1198V	HELZ_ENST00000580168.1_Silent_p.V1199V	NM_014877.3	NP_055692.2			helicase with zinc finger											NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					TCCCTCCATAGACAGCAGGTA	0.408000													9	86					0	0	1	0	0
CYP2E1	1571	broad.mit.edu	37	10	135346344	135346344	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr10:135346344C>G	ENST00000463117.2	+	7	1069	c.797C>G	c.(796-798)aCc>aGc	p.T266S	CYP2E1_ENST00000252945.3_Missense_Mutation_p.T266S|SPRN_ENST00000541506.1_Intron			P05181	CP2E1_HUMAN	cytochrome P450, family 2, subfamily E, polypeptide 1	266					drug metabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding			NS(1)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(7)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	Acetaminophen(DB00316)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Dacarbazine(DB00851)|Dapsone(DB00250)|Enflurane(DB00228)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethosuximide(DB00593)|Fomepizole(DB01213)|Glutathione(DB00143)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Isoniazid(DB00951)|Menadione(DB00170)|Mephenytoin(DB00532)|Methoxyflurane(DB01028)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitrofurantoin(DB00698)|Orphenadrine(DB01173)|Phenelzine(DB00780)|Quinidine(DB00908)|S-Adenosylmethionine(DB00118)|Sevoflurane(DB01236)|Theophylline(DB00277)|Tolbutamide(DB01124)	CGGGACCTCACCGACTGCCTG	0.512000									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of				18	24					0	0	1	0	0
SLC2A5	6518	broad.mit.edu	37	1	9097693	9097693	+	Silent	SNP	C	C	T			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr1:9097693C>T	ENST00000377424.4	-	12	1637	c.1458G>A	c.(1456-1458)ccG>ccA	p.P486P	SLC2A5_ENST00000536305.1_Silent_p.P427P|SLC2A5_ENST00000535586.1_Silent_p.P371P	NM_003039.2	NP_003030.1	P22732	GTR5_HUMAN	solute carrier family 2 (facilitated glucose/fructose transporter), member 5	486					carbohydrate metabolic process	integral to membrane|plasma membrane	fructose transmembrane transporter activity|glucose transmembrane transporter activity			endometrium(6)|kidney(15)|large_intestine(6)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1)	36	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.78e-07)|COAD - Colon adenocarcinoma(227;8.83e-05)|Kidney(185;0.000286)|KIRC - Kidney renal clear cell carcinoma(229;0.00103)|STAD - Stomach adenocarcinoma(132;0.0019)|BRCA - Breast invasive adenocarcinoma(304;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		CCTCCTTTTCCGGGTACACTT	0.507000													49	75					0	0	1	0	0
ATP11A	23250	broad.mit.edu	37	13	113481013	113481013	+	Silent	SNP	C	C	G			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr13:113481013C>G	ENST00000487903.1	+	12	1117	c.1029C>G	c.(1027-1029)ctC>ctG	p.L343L	ATP11A_ENST00000375630.2_Silent_p.L343L|ATP11A_ENST00000283558.8_Silent_p.L343L|ATP11A_ENST00000375645.3_Silent_p.L343L			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	343					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				TGCAGTTCCTCAAGGCATTCA	0.537000													19	89					0	0	1	0	0
REST	5978	broad.mit.edu	37	4	57777137	57777137	+	Silent	SNP	G	G	C			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr4:57777137G>C	ENST00000309042.7	+	2	647	c.333G>C	c.(331-333)ctG>ctC	p.L111L		NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN	RE1-silencing transcription factor	111	Interaction with SIN3A.				cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent	cytoplasm|transcriptional repressor complex	calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50	Glioma(25;0.08)|all_neural(26;0.181)					ACATGGAACTGAGAAGTTTGG	0.433000													19	56					0	0	1	0	0
YRDC	79693	broad.mit.edu	37	1	38272639	38272639	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr1:38272639T>C	ENST00000373044.2	-	3	518	c.514A>G	c.(514-516)Att>Gtt	p.I172V		NM_024640.3	NP_078916.3	Q86U90	YRDC_HUMAN	yrdC N(6)-threonylcarbamoyltransferase domain containing	172	YrdC-like.				negative regulation of transport	membrane|mitochondrion				lung(2)|upper_aerodigestive_tract(1)	3	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				GGAATCCGAATGCCTACAAGC	0.498000													17	20					0	0	1	0	0
PLOD3	8985	broad.mit.edu	37	7	100855553	100855553	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr7:100855553C>T	ENST00000223127.3	-	10	1506	c.1108G>A	c.(1108-1110)Gag>Aag	p.E370K		NM_001084.4	NP_001075.1	O60568	PLOD3_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3	370					protein modification process	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	31	Lung NSC(181;0.168)|all_lung(186;0.215)				Succinic acid(DB00139)|Vitamin C(DB00126)	TCCCTGGCCTCGCCTGGGCTC	0.667000													23	165					0	0	1	0	0
SLC38A2	54407	broad.mit.edu	37	12	46760703	46760703	+	Silent	SNP	C	C	T			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr12:46760703C>T	ENST00000256689.5	-	7	951	c.507G>A	c.(505-507)gtG>gtA	p.V169V	SLC38A2_ENST00000547252.1_5'UTR	NM_018976.4	NP_061849.2	Q96QD8	S38A2_HUMAN	solute carrier family 38, member 2	169					cellular nitrogen compound metabolic process|glutamate secretion|neurotransmitter secretion|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	18	Lung SC(27;0.192)|Renal(347;0.236)		OV - Ovarian serous cystadenocarcinoma(5;0.0048)|Epithelial(2;0.0374)	GBM - Glioblastoma multiforme(48;0.226)		ACTCATATTTCACTATGAAGA	0.388000													14	37					0	0	1	0	0
CCPG1	9236	broad.mit.edu	37	15	55653023	55653023	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr15:55653023C>G	ENST00000310958.6	-	8	1246	c.948G>C	c.(946-948)aaG>aaC	p.K316N	CCPG1_ENST00000425574.3_Intron|DYX1C1-CCPG1_ENST00000565113.1_RNA|CCPG1_ENST00000569205.1_Missense_Mutation_p.K316N|CCPG1_ENST00000442196.3_Missense_Mutation_p.K316N	NM_001204450.1|NM_001204451.1|NM_004748.4|NM_020739.3	NP_001191379.1|NP_001191380.1|NP_004739.3|NP_065790.2	Q9ULG6	CCPG1_HUMAN	cell cycle progression 1	316					cell cycle	integral to membrane				autonomic_ganglia(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|stomach(3)	30				all cancers(107;0.0354)		CTTTTTCTTCCTTCTCCAAGG	0.358000													3	54					0	0	1	0	0
TRAPPC8	22878	broad.mit.edu	37	18	29437875	29437875	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr18:29437875T>C	ENST00000283351.4	-	20	3151	c.2816A>G	c.(2815-2817)aAt>aGt	p.N939S	TRAPPC8_ENST00000582539.1_Missense_Mutation_p.N885S	NM_014939.3	NP_055754.2	Q9Y2L5	TPPC8_HUMAN	trafficking protein particle complex 8	939					ER to Golgi vesicle-mediated transport	cis-Golgi network				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TTTGCTGACATTGACAAATTC	0.378000													58	98					0	0	1	0	0
ELOVL1	64834	broad.mit.edu	37	1	43830081	43830081	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr1:43830081T>C	ENST00000372458.3	-	7	649	c.532A>G	c.(532-534)Atg>Gtg	p.M178V	ELOVL1_ENST00000470769.1_5'UTR|ELOVL1_ENST00000413844.2_Missense_Mutation_p.M151V	NM_001256399.1|NM_001256402.1|NM_022821.3	NP_001243328.1|NP_001243331.1|NP_073732.1	Q9BW60	ELOV1_HUMAN	ELOVL fatty acid elongase 1	178					fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|sphingolipid biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	integral to endoplasmic reticulum membrane	fatty acid elongase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|prostate(1)	4	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				TACAGGTACATTATGACATGC	0.522000													66	105					0	0	1	0	0
PABPC1	26986	broad.mit.edu	37	8	101733737	101733737	+	Silent	SNP	C	C	G			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr8:101733737C>G	ENST00000318607.5	-	1	1203	c.75G>C	c.(73-75)gcG>gcC	p.A25A	PABPC1_ENST00000519004.1_Intron|PABPC1_ENST00000522387.1_Silent_p.A25A	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1	25	RRM 1.				mRNA polyadenylation|mRNA stabilization|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|translation	catalytic step 2 spliceosome|cytosol	nucleotide binding|poly(A) RNA binding|protein C-terminus binding|translation activator activity			breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			CGTAGAGCATCGCCTCGGTCA	0.672000													7	43					0	0	1	0	0
SUV420H1	51111	broad.mit.edu	37	11	67941319	67941319	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr11:67941319C>G	ENST00000304363.4	-	6	958	c.605G>C	c.(604-606)aGa>aCa	p.R202T	SUV420H1_ENST00000405515.1_Missense_Mutation_p.R202T|SUV420H1_ENST00000402789.1_Missense_Mutation_p.R202T|SUV420H1_ENST00000402185.2_Missense_Mutation_p.R179T|SUV420H1_ENST00000401547.2_Missense_Mutation_p.R202T	NM_017635.3	NP_060105.3	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	202	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						TGATGAGTATCTATTACATGG	0.284000													22	34					0	0	1	0	0
ZBTB21	49854	broad.mit.edu	37	21	43412300	43412300	+	Silent	SNP	C	C	G			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr21:43412300C>G	ENST00000310826.5	-	3	2088	c.1905G>C	c.(1903-1905)ctG>ctC	p.L635L	ZBTB21_ENST00000465968.1_Intron|ZBTB21_ENST00000398505.3_Intron|ZBTB21_ENST00000398511.3_Silent_p.L635L|ZBTB21_ENST00000398499.1_Silent_p.L635L	NM_001098402.1	NP_001091872.1			zinc finger and BTB domain containing 21																		ACTTAATGATCAGGGCCTTCT	0.458000													4	81					0	0	1	0	0
ZNF335	63925	broad.mit.edu	37	20	44577711	44577711	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr20:44577711C>G	ENST00000322927.2	-	28	4010	c.3910G>C	c.(3910-3912)Gat>Cat	p.D1304H	ZNF335_ENST00000426788.1_Missense_Mutation_p.D1149H	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	1304	Gln-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				ATGGCAGCATCAGCCACTGCT	0.597000													6	32					0	0	1	0	0
SLX4	84464	broad.mit.edu	37	16	3656527	3656527	+	Silent	SNP	C	C	T			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr16:3656527C>T	ENST00000294008.3	-	3	1348	c.708G>A	c.(706-708)gcG>gcA	p.A236A		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	236	Interaction with C20orf94, ERCC4 and MSH2.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						TTTCTTCCCGCGCAGCCTCGA	0.512000								Direct reversal of damage					69	122					0	0	1	0	0
TMEM178A	130733	broad.mit.edu	37	2	39944277	39944277	+	Silent	SNP	C	C	T			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr2:39944277C>T	ENST00000281961.2	+	4	836	c.780C>T	c.(778-780)tgC>tgT	p.C260C	TMEM178A_ENST00000482239.1_3'UTR	NM_152390.2	NP_689603.2			transmembrane protein 178A																		CCATCTTTTGCGCCTGGTGCA	0.493000													55	71					0	0	1	0	0
DHX9	1660	broad.mit.edu	37	1	182845596	182845596	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr1:182845596C>G	ENST00000367549.3	+	18	2154	c.2044C>G	c.(2044-2046)Cag>Gag	p.Q682E		NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	682	Helicase C-terminal.				CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						CCATCGGTATCAGATTCTACC	0.383000													6	56					0	0	1	0	0
MAN2B2	23324	broad.mit.edu	37	4	6606982	6606982	+	Silent	SNP	G	G	A			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr4:6606982G>A	ENST00000285599.3	+	11	1776	c.1740G>A	c.(1738-1740)ttG>ttA	p.L580L	MAN2B2_ENST00000504960.1_3'UTR|MAN2B2_ENST00000504248.1_Silent_p.L529L	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	580					mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding			breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						GCAGGTACTTGGTGCCTGTGG	0.612000													39	7					0	0	1	0	0
CA6	765	broad.mit.edu	37	1	9034714	9034714	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr1:9034714T>G	ENST00000377443.2	+	8	882	c.878T>G	c.(877-879)cTa>cGa	p.L293R	CA6_ENST00000476083.1_3'UTR|CA6_ENST00000377442.2_Missense_Mutation_p.L233R	NM_001215.3	NP_001206.2	P23280	CAH6_HUMAN	carbonic anhydrase VI	293					one-carbon metabolic process	extracellular region	carbonate dehydratase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(5)	16	Ovarian(185;0.112)|all_lung(157;0.143)	all_epithelial(116;1.02e-19)|all_lung(118;3.6e-06)|Lung NSC(185;7.94e-06)|Renal(390;0.000147)|Breast(348;0.00123)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.9e-07)|COAD - Colon adenocarcinoma(227;8.28e-05)|Kidney(185;0.000268)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|STAD - Stomach adenocarcinoma(132;0.00184)|BRCA - Breast invasive adenocarcinoma(304;0.00192)|READ - Rectum adenocarcinoma(331;0.0649)		CAGTTTTACCTACATAAGATT	0.383000													8	10					0	0	1	0	0
UBC	7316	broad.mit.edu	37	12	125397967	125397967	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr12:125397967C>G	ENST00000536769.1	-	1	1927	c.351G>C	c.(349-351)caG>caC	p.Q117H	UBC_ENST00000339647.5_Missense_Mutation_p.Q117H|UBC_ENST00000538617.1_Missense_Mutation_p.Q117H|UBC_ENST00000546120.1_Intron			P0CG48	UBC_HUMAN	ubiquitin C	117	Ubiquitin-like 2.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	p.G111fs*15(1)		breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		AGATCAACCTCTGCTGGTCAG	0.547000													60	112					0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7735024	7735024	+	Silent	SNP	C	C	G			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr17:7735024C>G	ENST00000572933.1	+	82	14117	c.12657C>G	c.(12655-12657)gtC>gtG	p.V4219V	DNAH2_ENST00000389173.2_Silent_p.V4219V			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	4219					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GTCTCATCGTCATGTCTACAA	0.488000													11	48					0	0	1	0	0
DOCK1	1793	broad.mit.edu	37	10	129224216	129224216	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr10:129224216G>C	ENST00000280333.6	+	47	4901	c.4792G>C	c.(4792-4794)Gag>Cag	p.E1598Q		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	1598	DHR-2.				apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		CGAGAGGATGGAGGCCTGTTT	0.507000													27	93					0	0	1	0	0
NSMAF	8439	broad.mit.edu	37	8	59511881	59511881	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr8:59511881T>C	ENST00000038176.3	-	19	1707	c.1495A>G	c.(1495-1497)Agc>Ggc	p.S499G	NSMAF_ENST00000427130.2_Missense_Mutation_p.S530G	NM_003580.3	NP_003571.2	Q92636	FAN_HUMAN	neutral sphingomyelinase (N-SMase) activation associated factor	499	BEACH.				ceramide metabolic process	cytoplasm|soluble fraction	protein binding|receptor signaling protein activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38		all_lung(136;0.174)|Lung NSC(129;0.2)				ACATAATTGCTTTCCAATGCA	0.393000													49	73					0	0	1	0	0
DNAH6	1768	broad.mit.edu	37	2	84777021	84777021	+	Missense_Mutation	SNP	G	G	A	rs145235960		TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr2:84777021G>A	ENST00000389394.3	+	9	1462	c.1325G>A	c.(1324-1326)cGt>cAt	p.R442H	DNAH6_ENST00000398278.2_Missense_Mutation_p.R442H|DNAH6_ENST00000237449.6_Missense_Mutation_p.R442H	NM_001370.1	NP_001361.1	Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	442	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						AGCTTTATTCGTCTAAACGAC	0.303000													14	23					0	0	1	0	0
CDH23	64072	broad.mit.edu	37	10	73326583	73326583	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr10:73326583C>T	ENST00000224721.6	+	6	534	c.529C>T	c.(529-531)Cag>Tag	p.Q177*	CDH23_ENST00000299366.7_Nonsense_Mutation_p.Q217*|CDH23_ENST00000398809.4_Nonsense_Mutation_p.Q172*|CDH23_ENST00000398842.3_Nonsense_Mutation_p.Q172*|CDH23_ENST00000461841.3_Nonsense_Mutation_p.Q217*	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	172	Cadherin 2.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CTACTCCTTCCAGCCCCCCTC	0.612000													3	42					0	0	1	0	0
LRRC18	474354	broad.mit.edu	37	10	50122006	50122006	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr10:50122006G>C	ENST00000374160.3	-	1	271	c.195C>G	c.(193-195)atC>atG	p.I65M	WDFY4_ENST00000413659.2_Intron|RP11-523O18.7_ENST00000430438.1_RNA|LRRC18_ENST00000298124.3_Missense_Mutation_p.I65M|WDFY4_ENST00000325239.5_Intron	NM_001006939.3	NP_001006940.3	Q8N456	LRC18_HUMAN	leucine rich repeat containing 18	65						cytoplasm				NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						TGGAGTCAGGGATCTTCCTGA	0.527000													10	22					0	0	1	0	0
MRS2	57380	broad.mit.edu	37	6	24409763	24409763	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr6:24409763A>G	ENST00000378386.3	+	4	469	c.376A>G	c.(376-378)Atc>Gtc	p.I126V	MRS2_ENST00000535061.1_Intron|MRS2_ENST00000274747.7_Intron|MRS2_ENST00000378353.1_Missense_Mutation_p.I126V|MRS2_ENST00000443868.2_Missense_Mutation_p.I126V|MRS2_ENST00000483634.1_Intron|MRS2_ENST00000543597.1_5'UTR	NM_020662.2	NP_065713.1	Q9HD23	MRS2_HUMAN	MRS2 magnesium transporter	126					ion transport	integral to membrane|mitochondrial inner membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	12						TGTAATGAGTATCACAGTCAG	0.313000													22	39					0	0	1	0	0
ARHGAP26	23092	broad.mit.edu	37	5	142500686	142500686	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr5:142500686G>C	ENST00000378004.3	+	18	2027	c.1672G>C	c.(1672-1674)Gag>Cag	p.E558Q	ARHGAP26_ENST00000274498.4_Missense_Mutation_p.E558Q	NM_001135608.1	NP_001129080.1	Q9UNA1	RHG26_HUMAN	Rho GTPase activating protein 26	558	Rho-GAP.				actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction	cytoskeleton|cytosol|focal adhesion	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CATTGTCATTGAGATCCTAAT	0.443000													10	35					0	0	1	0	0
GPD1	2819	broad.mit.edu	37	12	50500130	50500130	+	Silent	SNP	C	C	T			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr12:50500130C>T	ENST00000301149.3	+	4	652	c.420C>T	c.(418-420)ctC>ctT	p.L140L	GPD1_ENST00000548814.1_Silent_p.L117L|GPD1_ENST00000547190.1_3'UTR	NM_001257199.1|NM_005276.3	NP_001244128.1|NP_005267.2	P21695	GPDA_HUMAN	glycerol-3-phosphate dehydrogenase 1 (soluble)	140					glycerol-3-phosphate catabolic process|triglyceride biosynthetic process	cytosol|glycerol-3-phosphate dehydrogenase complex	glycerol-3-phosphate dehydrogenase|protein homodimerization activity			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8					NADH(DB00157)	GGGAGCGCCTCGGCATCCCCA	0.617000													11	10					0	0	1	0	0
GPR137B	7107	broad.mit.edu	37	1	236347168	236347168	+	Missense_Mutation	SNP	G	G	A	rs147708340		TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr1:236347168G>A	ENST00000366592.3	+	5	1019	c.928G>A	c.(928-930)Gtt>Att	p.V310I	GPR137B_ENST00000477559.1_3'UTR	NM_003272.3	NP_003263.1	O60478	G137B_HUMAN	G protein-coupled receptor 137B	310						integral to plasma membrane|membrane fraction				endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.197)|Prostate(94;0.219)|Acute lymphoblastic leukemia(190;0.226)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)			CACCTTAGTCGTTTATTTCTT	0.373000													18	28					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9085082	9085082	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr19:9085082C>T	ENST00000397910.4	-	1	6936	c.6733G>A	c.(6733-6735)Gag>Aag	p.E2245K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2245	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGAATACTCTCAGCCCCATCT	0.448000													11	19					0	0	1	0	0
GREB1	9687	broad.mit.edu	37	2	11733135	11733135	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr2:11733135G>A	ENST00000381486.2	+	11	1879	c.1579G>A	c.(1579-1581)Gag>Aag	p.E527K	GREB1_ENST00000234142.5_Missense_Mutation_p.E527K	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	527						integral to membrane		p.E527K(2)		breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		CTCCCTGGCCGAGGGCCTCTC	0.667000													3	11					0	0	1	0	0
ADAMTSL5	339366	broad.mit.edu	37	19	1510410	1510410	+	Missense_Mutation	SNP	G	G	C	rs149832091		TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr19:1510410G>C	ENST00000330475.4	-	4	652	c.209C>G	c.(208-210)cCg>cGg	p.P70R	ADAMTSL5_ENST00000395467.2_5'UTR|ADAMTSL5_ENST00000590562.1_5'UTR|ADAMTSL5_ENST00000413997.2_Missense_Mutation_p.P80R	NM_213604.2	NP_998769.2	Q6ZMM2	ATL5_HUMAN	ADAMTS-like 5	70	TSP type-1.					proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	10		Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCCCAGCACGGTTCTTCCCC	0.672000													4	12					0	0	1	0	0
SPAG9	9043	broad.mit.edu	37	17	49057213	49057213	+	Silent	SNP	G	G	C	rs149696370		TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr17:49057213G>C	ENST00000262013.7	-	26	3511	c.3303C>G	c.(3301-3303)ggC>ggG	p.G1101G	SPAG9_ENST00000357122.4_Silent_p.G1087G|SPAG9_ENST00000505279.1_Silent_p.G1091G|SPAG9_ENST00000510283.1_Silent_p.G944G	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	sperm associated antigen 9	1101					positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis	acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm				NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			AGACCCACACGCCATCCCCCA	0.473000													26	14					0	0	1	0	0
ZNF248	57209	broad.mit.edu	37	10	38121209	38121209	+	Silent	SNP	C	C	G			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr10:38121209C>G	ENST00000395867.3	-	6	1624	c.1074G>C	c.(1072-1074)ggG>ggC	p.G358G	ZNF248_ENST00000374648.3_Intron|ZNF248_ENST00000357328.4_Silent_p.G358G|ZNF248_ENST00000494133.1_Intron	NM_001267605.1|NM_001267606.1|NM_001267607.1|NM_021045.2	NP_001254534.1|NP_001254535.1|NP_001254536.1|NP_066383.1	Q8NDW4	ZN248_HUMAN	zinc finger protein 248	358					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|urinary_tract(1)	20						TGAAATTACTCCCATTTTCAT	0.403000													29	58					0	0	1	0	0
GRM1	2911	broad.mit.edu	37	6	146673517	146673517	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr6:146673517G>C	ENST00000392299.2	+	5	1788	c.1318G>C	c.(1318-1320)Gat>Cat	p.D440H	GRM1_ENST00000492807.2_Missense_Mutation_p.D440H|GRM1_ENST00000361719.2_Missense_Mutation_p.D440H|GRM1_ENST00000282753.1_Missense_Mutation_p.D440H|GRM1_ENST00000507907.1_Missense_Mutation_p.D440H|GRM1_ENST00000355289.4_Missense_Mutation_p.D440H			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	440					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	GGGCCTCTGCGATGCCATGAA	0.547000													10	89					0	0	1	0	0
RTN1	6252	broad.mit.edu	37	14	60072193	60072193	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr14:60072193G>A	ENST00000267484.5	-	5	2340	c.2005C>T	c.(2005-2007)Cag>Tag	p.Q669*	RTN1_ENST00000342503.4_Nonsense_Mutation_p.Q101*|RTN1_ENST00000395090.1_Nonsense_Mutation_p.Q86*|RTN1_ENST00000557422.1_Intron	NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	669	Reticulon.				neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity			central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		ATCTGCTCCTGAGAAAGGGTG	0.517000													13	35					0	0	1	0	0
SLC25A22	79751	broad.mit.edu	37	11	794488	794488	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr11:794488G>A	ENST00000320230.5	-	4	653	c.172C>T	c.(172-174)Cgc>Tgc	p.R58C	SLC25A22_ENST00000531214.1_Missense_Mutation_p.R58C	NM_001191061.1|NM_024698.5	NP_001177990.1|NP_078974.1	Q9H936	GHC1_HUMAN	solute carrier family 25 (mitochondrial carrier: glutamate), member 22	58						integral to membrane|mitochondrial inner membrane|nucleus	L-glutamate transmembrane transporter activity|protein binding|symporter activity			endometrium(1)|kidney(1)|lung(2)|urinary_tract(1)	5		all_cancers(49;4.75e-06)|all_epithelial(84;0.00204)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;6.27e-26)|Epithelial(43;4.84e-25)|OV - Ovarian serous cystadenocarcinoma(40;2.72e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	L-Glutamic Acid(DB00142)	CCCTCGGAGCGGACGGTCTTG	0.692000													4	11					0	0	1	0	0
CDH11	1009	broad.mit.edu	37	16	65032599	65032599	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr16:65032599G>A	ENST00000394156.3	-	4	842	c.389C>T	c.(388-390)gCg>gTg	p.A130V	CDH11_ENST00000566827.1_Missense_Mutation_p.A4V|CDH11_ENST00000268603.4_Missense_Mutation_p.A130V			P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	130	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		CCTGTCCACCGCCTGAGCCAT	0.527000			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			17	7					0	0	1	0	0
RRN3P2	653390	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs151074589	by1000genomes	TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131																		p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328000													3	35					0	0	1	0	0
ARRB2	409	broad.mit.edu	37	17	4623596	4623596	+	Splice_Site	SNP	T	T	G			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr17:4623596T>G	ENST00000269260.2	+	12	1234		c.e12+2		ARRB2_ENST00000572457.1_Splice_Site|ARRB2_ENST00000346341.2_Splice_Site|ARRB2_ENST00000575877.1_Splice_Site|ARRB2_ENST00000571206.1_Splice_Site|ARRB2_ENST00000574954.1_Splice_Site|ARRB2_ENST00000412477.3_Splice_Site|ARRB2_ENST00000381488.6_Splice_Site	NM_001257328.1|NM_001257330.1|NM_004313.3	NP_001244257.1|NP_001244259.1|NP_004304.1	P32121	ARRB2_HUMAN	arrestin, beta 2						cell chemotaxis|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|G-protein coupled receptor internalization|negative regulation of natural killer cell mediated cytotoxicity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway	coated pit|cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane	angiotensin receptor binding|ubiquitin protein ligase binding	p.?(1)		large_intestine(1)|liver(2)|lung(3)|prostate(1)	7						TCGAGGCGGGTGAGTGTCATG	0.607000													8	45					0	0	1	0	0
FAM133B	257415	broad.mit.edu	37	7	92195342	92195342	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr7:92195342G>A	ENST00000438306.1	-	11	843	c.613C>T	c.(613-615)Cga>Tga	p.R205*	FAM133B_ENST00000427372.1_Nonsense_Mutation_p.R205*|FAM133B_ENST00000445716.1_Nonsense_Mutation_p.R215*	NM_001040057.1	NP_001035146.1	Q5BKY9	F133B_HUMAN	family with sequence similarity 133, member B	215	Lys-rich.									endometrium(1)|large_intestine(1)|ovary(1)|upper_aerodigestive_tract(1)	4	all_cancers(62;7.39e-11)|all_epithelial(64;7.03e-10)|Breast(17;0.00201)|all_lung(186;0.0384)|Lung NSC(181;0.053)|all_hematologic(106;0.237)		STAD - Stomach adenocarcinoma(4;6.16e-07)|GBM - Glioblastoma multiforme(5;9.78e-06)|all cancers(6;1.67e-05)|Epithelial(20;0.113)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			GCTTTTTCTCGTTCTTCACTG	0.323000													11	16					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82595320	82595320	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr7:82595320G>A	ENST00000423517.2	-	4	4121	c.3784C>T	c.(3784-3786)Cat>Tat	p.H1262Y	PCLO_ENST00000333891.8_Missense_Mutation_p.H1262Y	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1201					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						AGTAAGTCATGTTTCTGTTCT	0.418000													74	96					0	0	1	0	0
KIAA0922	23240	broad.mit.edu	37	4	154502640	154502640	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr4:154502640G>C	ENST00000409663.3	+	9	872	c.820G>C	c.(820-822)Gaa>Caa	p.E274Q	KIAA0922_ENST00000440693.1_Missense_Mutation_p.E274Q|KIAA0922_ENST00000409959.3_Missense_Mutation_p.E274Q	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN	KIAA0922	274						integral to membrane				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				AAAAGAATTTGAAGAAAACAC	0.343000													3	33					0	0	1	0	0
PRKCA	5578	broad.mit.edu	37	17	64299066	64299066	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr17:64299066G>C	ENST00000413366.3	+	1	123	c.97G>C	c.(97-99)Gag>Cag	p.E33Q	PRKCA_ENST00000583361.1_3'UTR	NM_002737.2	NP_002728.1	P17252	KPCA_HUMAN	protein kinase C, alpha	33					activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission	cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane	ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding	p.E33K(1)		breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38			BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		Phosphatidylserine(DB00144)|Vitamin E(DB00163)	GAACGTGCACGAGGTGAAGGA	0.627000													21	40					0	0	1	0	0
NCOR1	9611	broad.mit.edu	37	17	16024584	16024584	+	Splice_Site	SNP	C	C	T			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr17:16024584C>T	ENST00000268712.3	-	16	1892		c.e16-1		NCOR1_ENST00000395848.1_Splice_Site|NCOR1_ENST00000395851.1_Splice_Site|NCOR1_ENST00000583226.1_Splice_Site	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1						cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GGTATTTTCTCTGGACACAAA	0.383000													5	132					0	0	1	0	0
LARP4B	23185	broad.mit.edu	37	10	882344	882344	+	Splice_Site	SNP	T	T	A			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr10:882344T>A	ENST00000316157.3	-	7	789	c.750_splice	c.e7+1	p.E250_splice		NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	250	RRM.						nucleotide binding|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						ATTACTTACTTCCACGGGGGT	0.363000													15	33					0	0	1	0	0
FAM92A1	137392	broad.mit.edu	37	8	94740469	94740469	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr8:94740469G>A	ENST00000518322.1	+	9	955	c.814G>A	c.(814-816)Gaa>Aaa	p.E272K	FAM92A1_ENST00000517718.1_Missense_Mutation_p.E117K|FAM92A1_ENST00000520363.1_3'UTR|FAM92A1_ENST00000423990.2_Missense_Mutation_p.E234K	NM_145269.3	NP_660312.2	A1XBS5	F92A1_HUMAN	family with sequence similarity 92, member A1	272										NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)	7	Breast(36;2.4e-06)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			TCAACAAGCAGAAGATGATGA	0.289000													5	46					0	0	1	0	0
DPPA2	151871	broad.mit.edu	37	3	109028157	109028157	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr3:109028157C>T	ENST00000478945.1	-	4	448	c.202G>A	c.(202-204)Gag>Aag	p.E68K		NM_138815.3	NP_620170.3	Q7Z7J5	DPPA2_HUMAN	developmental pluripotency associated 2	68						nucleus	nucleic acid binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GTAAATTGCTCATTTGTTTGA	0.383000													5	112					0	0	1	0	0
SLC26A9	115019	broad.mit.edu	37	1	205892256	205892256	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr1:205892256C>T	ENST00000367135.3	-	16	1840	c.1727G>A	c.(1726-1728)aGa>aAa	p.R576K	SLC26A9_ENST00000340781.4_Missense_Mutation_p.R576K|SLC26A9_ENST00000367134.2_Missense_Mutation_p.R576K	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	solute carrier family 26 (anion exchanger), member 9	576	STAS.					integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			GGGCCTCATTCTCCGCTTCTC	0.517000													28	78					0	0	1	0	0
CTAGE1	64693	broad.mit.edu	37	18	19995601	19995601	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr18:19995601G>T	ENST00000391403.2	-	1	2277	c.2174C>A	c.(2173-2175)cCg>cAg	p.P725Q		NM_172241.2	NP_758441.2	Q96RT6	CTGE2_HUMAN	cutaneous T-cell lymphoma-associated antigen 1	725	Pro-rich.					integral to membrane				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					AAAACCTCTCGGTAAATAGAC	0.498000													22	26					5.26018e-13	5.45612e-13	1	1	0
ITSN2	50618	broad.mit.edu	37	2	24494796	24494796	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr2:24494796C>A	ENST00000355123.4	-	19	2539	c.2096G>T	c.(2095-2097)gGa>gTa	p.G699V	ITSN2_ENST00000361999.3_Missense_Mutation_p.G672V|ITSN2_ENST00000406921.3_Missense_Mutation_p.G699V	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	699					endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					gttttcttttccttgctttgc	0.299000													16	5					1.3612e-06	1.39591e-06	1	1	0
SIRPD	128646	broad.mit.edu	37	20	1517864	1517864	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr20:1517864C>G	ENST00000381623.3	-	3	1703	c.514G>C	c.(514-516)Gag>Cag	p.E172Q	SIRPD_ENST00000381621.1_Missense_Mutation_p.E173Q			Q9H106	SIRPD_HUMAN	signal-regulatory protein delta	172						extracellular region				breast(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)	15						CTGTTTCTCTCAGGCAGGGCC	0.602000													5	83					0	0	1	0	0
CSH2	1443	broad.mit.edu	37	17	61949939	61949939	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr17:61949939C>A	ENST00000336844.5	-	4	605	c.454G>T	c.(454-456)Ggg>Tgg	p.G152W	CSH2_ENST00000560142.1_Missense_Mutation_p.G95W|CSH2_ENST00000392886.2_Missense_Mutation_p.G152W|CSH2_ENST00000345366.7_Intron	NM_022644.3	NP_072170.1	P01243	CSH_HUMAN	chorionic somatomammotropin hormone 2	152					female pregnancy|signal transduction	extracellular region	hormone activity|metal ion binding			endometrium(2)|large_intestine(1)|lung(3)	6						ACCCTCACCCCCATCAGCGTT	0.582000													14	84					8.60227e-14	8.97413e-14	1	1	0
PRIMA1	145270	broad.mit.edu	37	14	94245530	94245530	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr14:94245530G>C	ENST00000393140.1	-	3	323	c.221C>G	c.(220-222)tCc>tGc	p.S74C	PRIMA1_ENST00000393143.1_Missense_Mutation_p.S74C|PRIMA1_ENST00000316227.3_Missense_Mutation_p.S74C	NM_178013.3	NP_821092.1	Q86XR5	PRIMA_HUMAN	proline rich membrane anchor 1	74					neurotransmitter catabolic process	cell junction|integral to membrane|synapse				endometrium(1)|large_intestine(2)|lung(3)|skin(1)	7		all_cancers(154;0.127)		Epithelial(152;0.138)|COAD - Colon adenocarcinoma(157;0.229)		ACCTggggcggagaggagtct	0.647000													3	7					0	0	1	0	0
PTGS1	5742	broad.mit.edu	37	9	125154519	125154519	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr9:125154519C>T	ENST00000362012.2	+	11	1501	c.1496C>T	c.(1495-1497)gCg>gTg	p.A499V	PTGS1_ENST00000540753.1_Missense_Mutation_p.A437V|PTGS1_ENST00000373698.5_Missense_Mutation_p.A390V|PTGS1_ENST00000223423.4_Missense_Mutation_p.A462V	NM_000962.2|NM_001271164.1|NM_080591.1	NP_000953.2|NP_001258093.1|NP_542158.1	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)	499					cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)	GACATTGATGCGTTGGAGTTC	0.468000													5	57					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168107133	168107133	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr2:168107133G>T	ENST00000409195.1	+	9	9320	c.9231G>T	c.(9229-9231)gaG>gaT	p.E3077D	XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.E2855D|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.E3077D|XIRP2_ENST00000420519.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2902					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TTGCCAAAGAGAAAACAGTAC	0.353000													55	18					1.27862e-28	1.36135e-28	1	1	0
SCN11A	11280	broad.mit.edu	37	3	38941542	38941542	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr3:38941542G>C	ENST00000302328.3	-	13	2063	c.1865C>G	c.(1864-1866)gCa>gGa	p.A622G	SCN11A_ENST00000456224.3_Missense_Mutation_p.A622G|SCN11A_ENST00000450244.1_Missense_Mutation_p.A622G|SCN11A_ENST00000444237.2_Missense_Mutation_p.A622G	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	622					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	GCACATTTCTGCTATAAAAAT	0.428000													3	19					0	0	1	0	0
CROCC	9696	broad.mit.edu	37	1	17266512	17266512	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr1:17266512G>A	ENST00000375541.5	+	13	1801	c.1732G>A	c.(1732-1734)Gac>Aac	p.D578N	CROCC_ENST00000467938.1_3'UTR	NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil, rootletin	578					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		GGACAAGACCGACGGCGCCAT	0.706000													6	33					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	114031357	114031357	+	Silent	SNP	G	G	A			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr8:114031357G>A	ENST00000297405.5	-	6	1213	c.969C>T	c.(967-969)ctC>ctT	p.L323L	CSMD3_ENST00000343508.3_Silent_p.L283L|CSMD3_ENST00000352409.3_Silent_p.L323L|CSMD3_ENST00000455883.2_Silent_p.L323L	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	323	CUB 2.					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						AATGCAGTCTGAGCCAGTTTT	0.353000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			6	115					0	0	1	0	0
TEX264	51368	broad.mit.edu	37	3	51708516	51708516	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr3:51708516G>C	ENST00000415259.1	+	2	1277	c.196G>C	c.(196-198)Gag>Cag	p.E66Q	TEX264_ENST00000341333.5_Missense_Mutation_p.E66Q|TEX264_ENST00000457573.1_Missense_Mutation_p.E66Q|TEX264_ENST00000395057.1_Missense_Mutation_p.E66Q|TEX264_ENST00000416589.1_Missense_Mutation_p.E66Q			Q9Y6I9	TX264_HUMAN	testis expressed 264	66						extracellular region				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	7				BRCA - Breast invasive adenocarcinoma(193;8.53e-05)|Kidney(197;0.000594)|KIRC - Kidney renal clear cell carcinoma(197;0.000759)		GCTTTTCACTGAGAGCTGCAG	0.587000													4	39					0	0	1	0	0
AFF3	3899	broad.mit.edu	37	2	100266105	100266105	+	Silent	SNP	G	G	A			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr2:100266105G>A	ENST00000317233.4	-	12	1402	c.1167C>T	c.(1165-1167)ctC>ctT	p.L389L	AFF3_ENST00000409236.1_Silent_p.L389L|AFF3_ENST00000409579.1_Silent_p.L414L|AFF3_ENST00000356421.2_Silent_p.L414L	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	389					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						AGAGAGCGCGGAGAGCCGTTC	0.363000													8	76					0	0	1	0	0
AQP11	282679	broad.mit.edu	37	11	77301533	77301533	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr11:77301533G>A	ENST00000313578.3	+	1	854	c.496G>A	c.(496-498)Gcg>Acg	p.A166T	AQP11_ENST00000528638.1_Intron	NM_173039.2	NP_766627.1	Q8NBQ7	AQP11_HUMAN	aquaporin 11	166						cell surface|integral to membrane	transporter activity			kidney(2)|large_intestine(1)|lung(5)	8	all_cancers(14;1.75e-17)|all_epithelial(13;4.7e-20)|Ovarian(111;0.249)		Epithelial(5;4.73e-49)|BRCA - Breast invasive adenocarcinoma(5;1.4e-30)			CTTGCTCAAAGCGGTCATCAC	0.567000													30	14					0	0	1	0	0
SPATA31A6	389730	broad.mit.edu	37	9	43628678	43628678	+	Silent	SNP	C	C	G			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr9:43628678C>G	ENST00000332857.6	-	3	292	c.264G>C	c.(262-264)ccG>ccC	p.P88P	SPATA31A6_ENST00000496386.1_5'UTR	NM_001145196.1	NP_001138668.1			SPATA31 subfamily A, member 6									p.P88P(1)									CCAGGCCTCTCGGGCACTCTC	0.587000													30	21					0	0	1	0	0
FAT1	2195	broad.mit.edu	37	4	187539265	187539266	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr4:187539265_187539266insC	ENST00000441802.2	-	10	8683_8684	c.8474_8475insG	c.(8473-8475)gagfs	p.E2825fs		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2825	Cadherin 26.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TTACTCTACTTCCCCCTGGCAG	0.436										HNSCC(5;0.00058)			29	24	---	---	---	---					
LURAP1L	286343	broad.mit.edu	37	9	12775861	12775862	+	In_Frame_Ins	INS	-	-	GGCGGCGGC	rs3833707	by1000genomes	TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr9:12775861_12775862insGGCGGCGGC	ENST00000319264.3	+	1	842_843	c.147_148insGGCGGCGGC	c.(145-150)gggcgg>ggGGCGGCGGCgcgg	p.49_50GR>GAAAR	RP11-3L8.3_ENST00000417638.1_RNA|LURAP1L_ENST00000489107.1_3'UTR	NM_203403.1	NP_981948.1	Q8IV03	CI150_HUMAN	leucine rich adaptor protein 1-like	49	Gly-rich.		Missing.					p.G49_G50insGGG(2)|p.G50_G52delGGG(1)									gcggtggtggtggcggcggcgg	0.688													4	2	---	---	---	---					
CORO1B	57175	broad.mit.edu	37	11	67209168	67209168	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr11:67209168delG	ENST00000545016.1	-	4	575	c.490delC	c.(490-492)acfs	p.H164fs	CORO1B_ENST00000341356.5_Intron|CORO1B_ENST00000393893.1_Intron|CORO1B_ENST00000453768.2_Intron			Q9BR76	COR1B_HUMAN	coronin, actin binding protein, 1B	0					actin cytoskeleton organization	actin cytoskeleton|cytoplasm	actin filament binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	13			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			AGGGGTCCGTGGGGGGGGGGA	0.657													5	11	---	---	---	---					
SMURF2P1	0	broad.mit.edu	37	17	28999184	28999185	+	RNA	INS	-	-	A			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr17:28999184_28999185insA	ENST00000578265.1	+	0	377																											AAGCCAAAGGGAAAAAAAATTA	0.376													7	39	---	---	---	---					
PKN1	5585	broad.mit.edu	37	19	14562741	14562741	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-7414-01A-11D-2078-08	TCGA-CV-7414-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7137f980-5301-4b18-9664-d887eaced75e	1d18702d-756c-4764-92d5-6ffbd598cc90	g.chr19:14562741delC	ENST00000242783.6	+	7	1236	c.1071delC	c.(1069-1071)cgfs	p.R357fs	PKN1_ENST00000342216.4_Frame_Shift_Del_p.R363fs	NM_002741.3	NP_002732.3	Q16512	PKN1_HUMAN	protein kinase N1	357	C2.				activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	endosome|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|GTP-Rho binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|Rac GTPase binding	p.F360fs*2(1)		breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						CAGACAGCCGCCCCCCCTTCC	0.667													11	10	---	---	---	---