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
BPIFB1	92747	broad.mit.edu	37	20	31876618	31876618	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr20:31876618C>T	ENST00000253354.1	+	3	348	c.187C>T	c.(187-189)Cgg>Tgg	p.R63W		NM_033197.2	NP_149974.2	Q8TDL5	LPLC1_HUMAN	BPI fold containing family B, member 1	63						extracellular space	lipid binding										CAGTGCCATGCGGGAAAAGCC	0.627000													10	41					0	0	0.058154	0	0
SLC15A1	6564	broad.mit.edu	37	13	99378415	99378415	+	Silent	SNP	G	G	A			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr13:99378415G>A	ENST00000376503.5	-	4	262	c.207C>T	c.(205-207)ctC>ctT	p.L69L		NM_005073.3	NP_005064.1	P46059	S15A1_HUMAN	solute carrier family 15 (oligopeptide transporter), member 1	69					digestion|protein transport	integral to plasma membrane|membrane fraction	peptide:hydrogen symporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000)	TAAGAGCTCCGAGAATTGGCG	0.453000													12	31					0	0	0.093190	0	0
NTF4	4909	broad.mit.edu	37	19	49564963	49564963	+	Missense_Mutation	SNP	C	C	G			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr19:49564963C>G	ENST00000301411.3	-	2	432	c.292G>C	c.(292-294)Gat>Cat	p.D98H	NTF4_ENST00000593537.1_Missense_Mutation_p.D98H|NTF4_ENST00000451356.2_Intron	NM_006179.4	NP_006170.1	P34130	NTF4_HUMAN	neurotrophin 4	98					adult locomotory behavior|epidermis development|ganglion mother cell fate determination|long-term memory|sensory organ boundary specification	endoplasmic reticulum lumen|extracellular region	growth factor activity			kidney(1)|lung(4)|upper_aerodigestive_tract(1)	6		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)		CTGACTGCATCGCACACAGCC	0.697000													6	15					0	0	0.217242	0	0
CUL9	23113	broad.mit.edu	37	6	43152214	43152214	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr6:43152214G>A	ENST00000252050.4	+	2	250	c.166G>A	c.(166-168)Gaa>Aaa	p.E56K	CUL9_ENST00000354495.3_Missense_Mutation_p.E56K|CUL9_ENST00000372647.2_Missense_Mutation_p.E56K	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	56					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						AGTGGGTGTGGAAGAAGGCAA	0.562000													18	37					0	0	0.189662	0	0
ICAM2	3384	broad.mit.edu	37	17	62080239	62080239	+	Silent	SNP	C	C	T			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr17:62080239C>T	ENST00000412356.1	-	6	1050	c.696G>A	c.(694-696)tcG>tcA	p.S232S	ICAM2_ENST00000449662.2_Silent_p.S232S|ICAM2_ENST00000418105.1_Silent_p.S232S|C17orf72_ENST00000412177.1_3'UTR|ICAM2_ENST00000581417.1_5'UTR|ICAM2_ENST00000579788.1_Silent_p.S232S|ICAM2_ENST00000579687.1_Silent_p.S232S|ICAM2_ENST00000578892.1_Silent_p.S208S|ICAM2_ENST00000578379.1_Silent_p.S131S	NM_001099786.1	NP_001093256.1	P13598	ICAM2_HUMAN	intercellular adhesion molecule 2	232					cell-cell adhesion|regulation of immune response	integral to plasma membrane	integrin binding			large_intestine(1)|lung(2)|ovary(1)|skin(2)	6						ACAGCAACACCGACACCACCG	0.612000													3	16					0	0	0.184627	0	0
KCNS2	3788	broad.mit.edu	37	8	99440583	99440583	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr8:99440583C>T	ENST00000287042.4	+	2	726	c.376C>T	c.(376-378)Cgc>Tgc	p.R126C	KCNS2_ENST00000521839.1_Missense_Mutation_p.R126C	NM_020697.2	NP_065748.1	Q9ULS6	KCNS2_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2	126						voltage-gated potassium channel complex	voltage-gated potassium channel activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			CTACCATGGCCGCAAAGTAGA	0.552000													20	40					0	0	0.069288	0	0
CSRP2BP	57325	broad.mit.edu	37	20	18123437	18123437	+	Missense_Mutation	SNP	C	C	G			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr20:18123437C>G	ENST00000278816.2	+	2	783	c.133C>G	c.(133-135)Cag>Gag	p.Q45E	PET117_ENST00000432901.2_3'UTR|CSRP2BP_ENST00000377681.2_Missense_Mutation_p.Q45E|CSRP2BP_ENST00000435364.2_Missense_Mutation_p.Q45E|CSRP2BP_ENST00000604915.1_Missense_Mutation_p.Q45E			Q9H8E8	CSR2B_HUMAN	CSRP2 binding protein	45					histone H3 acetylation	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm	LIM domain binding|N-acetyltransferase activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1)	34						ATCCGAGGATCAGGCATCAGT	0.547000													11	103					0	0	0.105934	0	0
NLRP11	204801	broad.mit.edu	37	19	56321143	56321143	+	Missense_Mutation	SNP	C	C	A			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr19:56321143C>A	ENST00000443188.1	-	5	1543	c.833G>T	c.(832-834)aGg>aTg	p.R278M	NLRP11_ENST00000592953.1_Missense_Mutation_p.R179M|NLRP11_ENST00000589093.1_Missense_Mutation_p.R278M|NLRP11_ENST00000589824.2_Missense_Mutation_p.R278M|NLRP11_ENST00000360133.3_Missense_Mutation_p.R278M	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	278	NACHT.						ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		ACGTGTGGGCCTTGAGGAGAT	0.463000													13	43					0.000151284	0.000161098	0.105934	1	0
TMEM37	140738	broad.mit.edu	37	2	120194723	120194723	+	Missense_Mutation	SNP	G	G	A	rs148211959	byFrequency	TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr2:120194723G>A	ENST00000306406.4	+	2	315	c.280G>A	c.(280-282)Gtg>Atg	p.V94M	TMEM37_ENST00000409826.1_Missense_Mutation_p.V106M|TMEM37_ENST00000465296.1_3'UTR	NM_183240.2	NP_899063.2	Q8WXS4	CCGL_HUMAN	transmembrane protein 37	94						integral to membrane	calcium channel activity|voltage-gated ion channel activity			breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	11						GGTACGCAGCGTGGGCGCCTT	0.637000													21	68					0	0	0.204396	0	0
SSBP1	6742	broad.mit.edu	37	7	141445354	141445354	+	Missense_Mutation	SNP	G	G	T			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr7:141445354G>T	ENST00000481508.1	+	6	808	c.373G>T	c.(373-375)Gtg>Ttg	p.V125L	SSBP1_ENST00000465582.1_Missense_Mutation_p.V125L|SSBP1_ENST00000498107.1_Missense_Mutation_p.V125L|SSBP1_ENST00000265304.6_Missense_Mutation_p.V125L|SSBP1_ENST00000484178.1_Missense_Mutation_p.V125L|SSBP1_ENST00000469123.1_3'UTR	NM_001256510.1	NP_001243439.1	Q04837	SSBP_HUMAN	single-stranded DNA binding protein 1, mitochondrial	125	SSB.				DNA replication|positive regulation of helicase activity	mitochondrial nucleoid	single-stranded DNA binding			large_intestine(3)|lung(1)|ovary(1)|pancreas(1)|skin(1)	7	Melanoma(164;0.0171)					TAAAAATAATGTGAGGCGACA	0.313000													15	40					4.7546e-09	5.1749e-09	0.146539	1	0
NEBL	10529	broad.mit.edu	37	10	21106596	21106596	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr10:21106596C>T	ENST00000377122.4	-	21	2477	c.2081G>A	c.(2080-2082)cGg>cAg	p.R694Q	NEBL_ENST00000377159.4_Intron|NEBL_ENST00000417816.2_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	694					regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TGCAGTTCCCCGTTGAAGTTC	0.383000													15	56					0	0	0.175082	0	0
EMC9	51016	broad.mit.edu	37	14	24608771	24608771	+	Missense_Mutation	SNP	C	C	A			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr14:24608771C>A	ENST00000419198.2	-	3	608	c.328G>T	c.(328-330)Gat>Tat	p.D110Y	EMC9_ENST00000558200.1_5'UTR|EMC9_ENST00000216799.4_Missense_Mutation_p.D110Y|RP11-468E2.5_ENST00000558478.1_lincRNA|EMC9_ENST00000560403.1_Missense_Mutation_p.D36Y					ER membrane protein complex subunit 9																		AGTACTGCATCAGGGAAGAAT	0.527000													8	24					0.000442599	0.000461334	0.058154	1	0
SNHG14	104472715	broad.mit.edu	37	15	25332880	25332880	+	RNA	SNP	A	A	T			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr15:25332880A>T	ENST00000546682.1	+	0	586				SNORD116-21_ENST00000384529.1_lincRNA|SNHG14_ENST00000549804.2_RNA|SNHG14_ENST00000553108.1_RNA	NR_003361.1																						CTATACTGTCATCCTCGTCGA	0.448000													42	118					0	0	0.111260	0	0
PLA2G4F	255189	broad.mit.edu	37	15	42434752	42434752	+	Missense_Mutation	SNP	C	C	T	rs138996971		TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr15:42434752C>T	ENST00000397272.3	-	19	2400	c.2309G>A	c.(2308-2310)cGt>cAt	p.R770H	PLA2G4F_ENST00000382396.4_Missense_Mutation_p.R768H	NM_213600.3	NP_998765.3	Q68DD2	PA24F_HUMAN	phospholipase A2, group IVF	768	PLA2c.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		GCGGAAGGTACGGTTAACCAG	0.637000													12	50					0	0	0.105934	0	0
LOC101927209	101927209	broad.mit.edu	37	1	142713773	142713773	+	RNA	SNP	C	C	G			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr1:142713773C>G	ENST00000369381.2	-	0	832																											TCTTTTTCCACATTGTCATTT	0.284000													4	56					0	0	0.150653	0	0
OR4C6	219432	broad.mit.edu	37	11	55433179	55433179	+	Missense_Mutation	SNP	G	G	T			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr11:55433179G>T	ENST00000314259.3	+	1	566	c.537G>T	c.(535-537)ttG>ttT	p.L179F		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	179					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						TATGTGATTTGTTTCAGTTGT	0.433000													50	63					3.68337e-26	4.21875e-26	0.139131	1	0
PCDHGA11	56105	broad.mit.edu	37	5	140801398	140801398	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr5:140801398G>A	ENST00000398587.2	+	1	637	c.604G>A	c.(604-606)Gac>Aac	p.D202N	PCDHGA7_ENST00000518325.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Missense_Mutation_p.D202N|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB4_ENST00000519479.1_Intron	NM_018914.2|NM_032092.1	NP_061737.1|NP_114481.1														breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGAAGCCTGGACCGAGAGAA	0.562000													12	30					0	0	0.093190	0	0
MATN4	8785	broad.mit.edu	37	20	43930045	43930045	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr20:43930045G>A	ENST00000537548.1	-	5	926	c.682C>T	c.(682-684)Cac>Tac	p.H228Y	MATN4_ENST00000353917.5_Intron|MATN4_ENST00000372754.1_Missense_Mutation_p.H269Y|MATN4_ENST00000372756.1_Missense_Mutation_p.H228Y|MATN4_ENST00000342716.4_Missense_Mutation_p.H228Y|MATN4_ENST00000372753.1_Missense_Mutation_p.H79Y|MATN4_ENST00000360607.5_Intron|MATN4_ENST00000372751.4_Missense_Mutation_p.H79Y			O95460	MATN4_HUMAN	matrilin 4	269	EGF-like 1; incomplete.					extracellular region	protein binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				ACGCAGTGGTGCTCACATCCA	0.557000													22	32					0	0	0.234183	0	0
PARP16	54956	broad.mit.edu	37	15	65555626	65555626	+	Silent	SNP	G	G	A			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr15:65555626G>A	ENST00000261888.6	-	4	997	c.552C>T	c.(550-552)acC>acT	p.T184T	PARP16_ENST00000444347.2_Silent_p.T69T	NM_017851.4	NP_060321.3	Q8N5Y8	PAR16_HUMAN	poly (ADP-ribose) polymerase family, member 16	184	PARP catalytic.					integral to membrane	NAD+ ADP-ribosyltransferase activity			kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	9						TCAAGTCACTGGTGAGGTAGG	0.567000													4	18					0	0	0.029380	0	0
LAMA2	3908	broad.mit.edu	37	6	129714240	129714240	+	Missense_Mutation	SNP	G	G	C	rs138296015	by1000genomes	TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr6:129714240G>C	ENST00000421865.2	+	37	5334	c.5285G>C	c.(5284-5286)cGg>cCg	p.R1762P		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1762	Domain II and I.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GGAGAGTCCCGGGGGGAAAAT	0.468000													13	47					0	0	0.093190	0	0
CUX1	1523	broad.mit.edu	37	7	101840038	101840038	+	Silent	SNP	C	C	T			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr7:101840038C>T	ENST00000360264.3	+	15	1400	c.1380C>T	c.(1378-1380)caC>caT	p.H460H	CUX1_ENST00000437600.4_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000549414.2_Silent_p.H449H|CUX1_ENST00000292535.7_Silent_p.H449H|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000556210.1_Intron|CUX1_ENST00000550008.2_Silent_p.H449H|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000546411.2_Intron	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN	cut-like homeobox 1	449					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						ATGGTACACACCAGTTCTCAC	0.572000													30	73					0	0	0.163468	0	0
DNAH5	1767	broad.mit.edu	37	5	13871718	13871718	+	Missense_Mutation	SNP	C	C	A			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr5:13871718C>A	ENST00000265104.4	-	23	3657	c.3553G>T	c.(3553-3555)Gct>Tct	p.A1185S	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1185	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)					TCAGGCTCAGCATTAATTTCC	0.373000									Kartagener syndrome				4	99					0.184627	0.189435	0.184627	1	0
CTNND2	1501	broad.mit.edu	37	5	11346651	11346651	+	Missense_Mutation	SNP	C	C	G			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr5:11346651C>G	ENST00000304623.8	-	9	1650	c.1461G>C	c.(1459-1461)caG>caC	p.Q487H	CTNND2_ENST00000359640.2_Missense_Mutation_p.Q487H|CTNND2_ENST00000511377.1_Missense_Mutation_p.Q396H|CTNND2_ENST00000503622.1_Missense_Mutation_p.Q150H|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000458100.2_Missense_Mutation_p.Q54H	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	487					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						AGCTGGCCCTCTGGAAGGTGG	0.642000													19	103					0	0	0.175082	0	0
VPS13B	157680	broad.mit.edu	37	8	100729474	100729474	+	Missense_Mutation	SNP	G	G	A	rs147099791	by1000genomes	TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr8:100729474G>A	ENST00000358544.2	+	37	6716	c.6605G>A	c.(6604-6606)cGc>cAc	p.R2202H	VPS13B_ENST00000357162.2_Missense_Mutation_p.R2177H|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	2202					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)			GAAAGAAGCCGCATTCTGATA	0.393000													28	32					0	0	0.108266	0	0
TENC1	23371	broad.mit.edu	37	12	53450797	53450797	+	Splice_Site	SNP	G	G	A			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr12:53450797G>A	ENST00000314250.6	+	11	1052	c.761_splice	c.e11-1	p.G254_splice	TENC1_ENST00000549700.1_Splice_Site_p.G254_splice|TENC1_ENST00000314276.3_Splice_Site_p.G264_splice|TENC1_ENST00000552570.1_Splice_Site_p.G254_splice|TENC1_ENST00000379902.3_Splice_Site_p.G130_splice|TENC1_ENST00000546602.1_Splice_Site_p.G254_splice|TENC1_ENST00000451358.1_Splice_Site_p.G254_splice	NM_170754.2	NP_736610.2	Q63HR2	TENC1_HUMAN	tensin like C1 domain containing phosphatase (tensin 2)	254	Phosphatase tensin-type.				intracellular signal transduction|negative regulation of cell proliferation	focal adhesion	metal ion binding|phosphoprotein phosphatase activity|protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						CTATCCCCAGGGCGGACCAGG	0.577000													3	16					0	0	0.115264	0	0
PLEKHG2	64857	broad.mit.edu	37	19	39905661	39905661	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr19:39905661C>T	ENST00000425673.1	+	3	464	c.139C>T	c.(139-141)Cga>Tga	p.R47*	PLEKHG2_ENST00000409797.2_Nonsense_Mutation_p.R47*|PLEKHG2_ENST00000458508.2_Intron|PLEKHG2_ENST00000409794.3_Nonsense_Mutation_p.R47*|PLEKHG2_ENST00000378550.1_Nonsense_Mutation_p.R47*			Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	47					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GGCCTCCCCCCGAGGTTCTGG	0.652000													4	3					0	0	0.184627	0	0
KRBA1	84626	broad.mit.edu	37	7	149430329	149430329	+	Silent	SNP	G	G	A			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr7:149430329G>A	ENST00000255992.10	+	18	2682	c.2283G>A	c.(2281-2283)ccG>ccA	p.P761P	KRBA1_ENST00000485033.2_Silent_p.P701P|KRBA1_ENST00000319551.8_Silent_p.P701P|KRBA1_ENST00000479560.1_3'UTR	NM_032534.2	NP_115923.2	A5PL33	KRBA1_HUMAN	KRAB-A domain containing 1	762	Pro-rich.									breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1)	27	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCCAGGGCCCGCCTGAGCTGC	0.647000													39	114					0	0	0.111260	0	0
TP53	7157	broad.mit.edu	37	17	7577548	7577548	+	Missense_Mutation	SNP	C	C	T	rs28934575		TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr17:7577548C>T	ENST00000420246.2	-	7	865	c.733G>A	c.(733-735)Ggc>Agc	p.G245S	TP53_ENST00000359597.4_Missense_Mutation_p.G245S|TP53_ENST00000413465.2_Missense_Mutation_p.G245S|TP53_ENST00000445888.2_Missense_Mutation_p.G245S|TP53_ENST00000455263.2_Missense_Mutation_p.G245S|TP53_ENST00000269305.4_Missense_Mutation_p.G245S	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	245	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.G245S(304)|p.G245C(59)|p.G245R(10)|p.G152S(8)|p.0?(8)|p.?(5)|p.G152C(4)|p.G244_M246>V(3)|p.G245N(2)|p.G245fs*2(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.G245fs*22(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CGGTTCATGCCGCCCATGCAG	0.577000	G245S(LS1034_LARGE_INTESTINE)|G245S(NUGC2_STOMACH)|G245S(PANC0403_PANCREAS)|G245S(SKLMS1_SOFT_TISSUE)|G245S(SKMEL2_SKIN)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			18	28					0	0	0.219247	0	0
GNAS	2778	broad.mit.edu	37	20	57415178	57415178	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr20:57415178G>A	ENST00000313949.7	+	1	406	c.17G>A	c.(16-18)cGg>cAg	p.R6Q	GNAS-AS1_ENST00000443966.1_RNA|GNAS-AS1_ENST00000424094.2_RNA|GNAS_ENST00000371098.2_Missense_Mutation_p.R6Q|GNAS_ENST00000371075.3_Missense_Mutation_p.R6Q|GNAS-AS1_ENST00000598163.1_RNA			P63092	GNAS2_HUMAN	GNAS complex locus	0				N -> T (in Ref. 3; CAA30084).	activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			CGGAGGTCCCGGGCTCAGCAG	0.667000			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)			30	30					0	0	0.163468	0	0
TAL1	6886	broad.mit.edu	37	1	47689752	47689752	+	Silent	SNP	C	C	T			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr1:47689752C>T	ENST00000371883.3	-	3	1047	c.471G>A	c.(469-471)ccG>ccA	p.P157P	TAL1_ENST00000371884.2_Silent_p.P155P|TAL1_ENST00000294339.3_Silent_p.P155P			P17542	TAL1_HUMAN	T-cell acute lymphocytic leukemia 1	155					basophil differentiation|cell fate commitment|cell proliferation|embryonic hemopoiesis|erythrocyte differentiation|megakaryocyte differentiation|positive regulation of cell division|positive regulation of chromatin assembly or disassembly|positive regulation of erythrocyte differentiation|positive regulation of mitotic cell cycle|positive regulation of protein complex assembly|positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	E-box binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity			haematopoietic_and_lymphoid_tissue(1)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	15						GGAAGGCATCCGGCTCCCCAA	0.562000			T	"""TRD@, SIL"""	lymphoblastic leukemia/biphasic								23	66					0	0	0.069288	0	0
DYRK4	8798	broad.mit.edu	37	12	4705363	4705363	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr12:4705363G>A	ENST00000540757.2	+	5	491	c.331G>A	c.(331-333)Ggg>Agg	p.G111R	DYRK4_ENST00000010132.5_Missense_Mutation_p.G111R|DYRK4_ENST00000543431.1_Missense_Mutation_p.G111R	NM_003845.1	NP_003836.1	Q9NR20	DYRK4_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4	111	Protein kinase.					Golgi apparatus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27			Colorectal(7;0.103)			GGAGACAATCGGGAAGGGGTC	0.542000													49	85					0	0	0.139131	0	0
C5AR1	728	broad.mit.edu	37	19	47823721	47823721	+	Silent	SNP	G	G	A			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr19:47823721G>A	ENST00000355085.3	+	2	709	c.687G>A	c.(685-687)acG>acA	p.T229T		NM_001736.3	NP_001727.1	P21730	C5AR_HUMAN	complement component 5a receptor 1	229					activation of MAPK activity|activation of phospholipase C activity|cellular defense response|elevation of cytosolic calcium ion concentration|immune response|sensory perception of chemical stimulus	integral to plasma membrane	C5a anaphylatoxin receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)	20		all_cancers(25;2e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000267)|OV - Ovarian serous cystadenocarcinoma(262;0.000618)|Epithelial(262;0.0142)|GBM - Glioblastoma multiforme(486;0.0242)		TGCTCCGGACGTGGAGCCGCA	0.617000													37	83					0	0	0.214465	0	0
TNKS1BP1	85456	broad.mit.edu	37	11	57088123	57088123	+	Missense_Mutation	SNP	A	A	C			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr11:57088123A>C	ENST00000532437.1	-	2	469	c.158T>G	c.(157-159)cTg>cGg	p.L53R	TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.L53R			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	53	Arg/Glu/Lys/Pro-rich (charged).				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				TTTGGCAGGCAGGGCTGGCTT	0.647000													5	26					0	0	0.217242	0	0
ZNF749	388567	broad.mit.edu	37	19	57955756	57955756	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr19:57955756G>A	ENST00000334181.4	+	3	1490	c.1240G>A	c.(1240-1242)Gaa>Aaa	p.E414K	AC004076.9_ENST00000596831.1_Intron	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN	zinc finger protein 749	414					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)		TAAGTGTAGCGAATGTGGGAA	0.428000													26	58					0	0	0.083992	0	0
IGHV4-4	28401	broad.mit.edu	37	14	106478357	106478357	+	RNA	SNP	G	G	C			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr14:106478357G>C	ENST00000390596.2	-	0	164																											CAGGGTCTCCGAAGGCTTCAC	0.622000													17	22					0	0	0.175082	0	0
CYP2R1	120227	broad.mit.edu	37	11	14913703	14913703	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr11:14913703C>T	ENST00000334636.5	-	1	95	c.49G>A	c.(49-51)Gcg>Acg	p.A17T		NM_024514.4	NP_078790.2	Q6VVX0	CP2R1_HUMAN	cytochrome P450, family 2, subfamily R, polypeptide 1	17					hormone biosynthetic process|vitamin D metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding|vitamin D3 25-hydroxylase activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14					Cholecalciferol(DB00169)|Ergocalciferol(DB00153)	AGGAAGAGCGCGCCGCCGAGC	0.701000													10	17					0	0	0.093190	0	0
CDK4	1019	broad.mit.edu	37	12	58143283	58143283	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr12:58143283G>A	ENST00000257904.6	-	6	1002	c.637C>T	c.(637-639)Ctc>Ttc	p.L213F	TSPAN31_ENST00000547992.1_3'UTR|CDK4_ENST00000551888.1_5'UTR|CDK4_ENST00000312990.6_Silent_p.L95L|CDK4_ENST00000549606.1_5'UTR|CDK4_ENST00000540325.1_Missense_Mutation_p.L93F	NM_000075.3	NP_000066.1	P11802	CDK4_HUMAN	cyclin-dependent kinase 4	213	Protein kinase.				cell division|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|positive regulation of fibroblast proliferation|regulation of gene expression|response to drug|S phase of mitotic cell cycle	cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane	ATP binding|cyclin-dependent protein kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	21	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)			CCACAGAAGAGAGGCCTAAGG	0.403000			Mis			melanoma			Hereditary Melanoma				7	21					0	0	0.058154	0	0
ZNF23	7571	broad.mit.edu	37	16	71482652	71482652	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr16:71482652C>T	ENST00000393539.2	-	6	2089	c.1276G>A	c.(1276-1278)Ggg>Agg	p.G426R	AC010547.9_ENST00000561908.1_3'UTR|ZNF23_ENST00000358700.2_3'UTR|ZNF23_ENST00000428724.2_Missense_Mutation_p.G368R|RP11-510M2.10_ENST00000576258.1_RNA|ZNF23_ENST00000539742.1_5'UTR|ZNF23_ENST00000564528.1_Missense_Mutation_p.G368R|ZNF23_ENST00000417828.1_Missense_Mutation_p.G426R|ZNF23_ENST00000497160.1_3'UTR|ZNF23_ENST00000357254.4_Missense_Mutation_p.G426R	NM_145911.1	NP_666016.1	P17027	ZNF23_HUMAN	zinc finger protein 23	426					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(14)|stomach(1)|urinary_tract(1)	29		Ovarian(137;0.00768)		BRCA - Breast invasive adenocarcinoma(221;0.0686)		AAGGCTTTCCCGCATTCATTA	0.463000													8	30					0	0	0.069234	0	0
EFTUD1	79631	broad.mit.edu	37	15	82512532	82512532	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr15:82512532C>T	ENST00000268206.7	-	13	1499	c.1331G>A	c.(1330-1332)cGt>cAt	p.R444H	EFTUD1_ENST00000359445.3_Missense_Mutation_p.R393H	NM_024580.5	NP_078856.4	Q7Z2Z2	ETUD1_HUMAN	elongation factor Tu GTP binding domain containing 1	444					mature ribosome assembly		GTP binding|GTPase activity|ribosome binding|translation elongation factor activity			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						TTGTCTTGCACGCTCACGTCT	0.498000													45	144					0	0	0.139131	0	0
SNX24	28966	broad.mit.edu	37	5	122337107	122337107	+	Missense_Mutation	SNP	G	G	C			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr5:122337107G>C	ENST00000261369.4	+	5	537	c.352G>C	c.(352-354)Gat>Cat	p.D118H	SNX24_ENST00000513881.1_Missense_Mutation_p.D118H|SNX24_ENST00000506996.1_Missense_Mutation_p.D118H|SNX24_ENST00000395451.4_Missense_Mutation_p.D151H	NM_014035.2	NP_054754.1	Q9Y343	SNX24_HUMAN	sorting nexin 24	118	PX.				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding			lung(5)	5		Prostate(80;0.0387)	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	OV - Ovarian serous cystadenocarcinoma(64;0.000654)|Epithelial(69;0.0016)|all cancers(49;0.0139)		TAGATCTTTTGATGAAACAGA	0.318000													3	15					0	0	0.150653	0	0
PDSS2	57107	broad.mit.edu	37	6	107780282	107780282	+	Missense_Mutation	SNP	G	G	C			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr6:107780282G>C	ENST00000369037.4	-	1	485	c.208C>G	c.(208-210)Cgc>Ggc	p.R70G	PDSS2_ENST00000453874.2_Missense_Mutation_p.R70G|PDSS2_ENST00000369031.4_Missense_Mutation_p.R70G	NM_020381.3	NP_065114.3	Q86YH6	DLP1_HUMAN	prenyl (decaprenyl) diphosphate synthase, subunit 2	70					isoprenoid biosynthetic process|ubiquinone biosynthetic process	mitochondrion	protein heterodimerization activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)	19	Breast(9;0.0127)	all_cancers(87;3.63e-05)|Acute lymphoblastic leukemia(125;2.86e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.0108)|Colorectal(196;0.156)|Lung NSC(302;0.211)	BRCA - Breast invasive adenocarcinoma(8;0.0101)|all cancers(7;0.243)	BRCA - Breast invasive adenocarcinoma(108;0.112)|OV - Ovarian serous cystadenocarcinoma(136;0.173)|all cancers(137;0.191)		AGCAGGCAGCGAAGGCTCATG	0.622000											OREG0017595	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	36					0	0	0.080935	0	0
GPR132	29933	broad.mit.edu	37	14	105518369	105518369	+	Silent	SNP	G	G	A			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr14:105518369G>A	ENST00000329797.3	-	4	1016	c.105C>T	c.(103-105)aaC>aaT	p.N35N	GPR132_ENST00000546679.1_5'UTR|GPR132_ENST00000539291.2_Silent_p.N35N|GPR132_ENST00000392585.2_Silent_p.N26N	NM_013345.2	NP_037477.1	Q9UNW8	GP132_HUMAN	G protein-coupled receptor 132	35					response to stress	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	18		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521)		CGAAGGACACGTTGTTGCAGG	0.657000													17	50					0	0	0.160694	0	0
MYO7B	4648	broad.mit.edu	37	2	128384586	128384586	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr2:128384586G>A	ENST00000389524.4	+	31	4227	c.4174G>A	c.(4174-4176)Gtg>Atg	p.V1392M	MYO7B_ENST00000409816.2_Missense_Mutation_p.V1392M|MYO7B_ENST00000409090.1_Missense_Mutation_p.V245M|MYO7B_ENST00000428314.1_Missense_Mutation_p.V1392M			Q6PIF6	MYO7B_HUMAN	myosin VIIB	1392	FERM 1.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		ACCACTGGCCGTGCGAGAGCA	0.612000													7	7					0	0	0.029380	0	0
ACOX2	8309	broad.mit.edu	37	3	58516345	58516345	+	Silent	SNP	G	G	A	rs142094321	byFrequency	TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr3:58516345G>A	ENST00000302819.5	-	8	1131	c.840C>T	c.(838-840)taC>taT	p.Y280Y	ACOX2_ENST00000459701.2_Silent_p.Y266Y	NM_003500.3	NP_003491.1	Q99424	ACOX2_HUMAN	acyl-CoA oxidase 2, branched chain	280					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity|acyl-CoA dehydrogenase activity|pristanoyl-CoA oxidase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156)		CGAGTTTGACGTAGGTGCCAT	0.597000													7	16					0	0	0.038147	0	0
DYSF	8291	broad.mit.edu	37	2	71755438	71755438	+	Silent	SNP	C	C	T			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr2:71755438C>T	ENST00000258104.3	+	13	1468	c.1191C>T	c.(1189-1191)gcC>gcT	p.A397A	DYSF_ENST00000410041.1_Silent_p.A429A|DYSF_ENST00000409366.1_Silent_p.A398A|DYSF_ENST00000410020.3_Silent_p.A429A|DYSF_ENST00000409744.1_Silent_p.A398A|DYSF_ENST00000394120.2_Silent_p.A398A|DYSF_ENST00000429174.2_Silent_p.A397A|DYSF_ENST00000409762.1_Silent_p.A428A|DYSF_ENST00000409651.1_Silent_p.A429A|DYSF_ENST00000413539.2_Silent_p.A428A|DYSF_ENST00000409582.3_Silent_p.A428A	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	397	C2 3.					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						TGGACGATGCCGTGATGGACA	0.542000													7	16					0	0	0.038147	0	0
NR5A2	2494	broad.mit.edu	37	1	200017721	200017721	+	Silent	SNP	G	G	T			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr1:200017721G>T	ENST00000367362.3	+	5	1131	c.885G>T	c.(883-885)acG>acT	p.T295T	NR5A2_ENST00000236914.3_Silent_p.T249T|NR5A2_ENST00000544748.1_Silent_p.T223T	NM_001276464.1|NM_205860.1	NP_001263393.1|NP_995582.1	O00482	NR5A2_HUMAN	nuclear receptor subfamily 5, group A, member 2	295					embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31	Prostate(682;0.19)					GTTACCAGACGAGCTCTCCAG	0.498000													24	52					1.10923e-09	1.22077e-09	0.076483	1	0
BRIX1	55299	broad.mit.edu	37	5	34924964	34924964	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr5:34924964G>A	ENST00000336767.5	+	9	1039	c.676G>A	c.(676-678)Gat>Aat	p.D226N	BRIX1_ENST00000506023.1_3'UTR	NM_018321.3	NP_060791.3	Q8TDN6	BRX1_HUMAN	BRX1, biogenesis of ribosomes, homolog (S. cerevisiae)	226	Brix.				ribosome biogenesis|translation	nucleolus	aminoacyl-tRNA ligase activity|ATP binding|protein binding			central_nervous_system(1)|large_intestine(2)|lung(1)	4						CATAGAAGAAGATGCTGCTCT	0.338000													9	68					0	0	0.069234	0	0
NAV3	89795	broad.mit.edu	37	12	78583919	78583919	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr12:78583919G>A	ENST00000397909.2	+	34	6384	c.6211G>A	c.(6211-6213)Gaa>Aaa	p.E2071K	NAV3_ENST00000552300.1_3'UTR|NAV3_ENST00000228327.6_Missense_Mutation_p.E2049K|NAV3_ENST00000266692.7_Missense_Mutation_p.E1872K|NAV3_ENST00000536525.2_Missense_Mutation_p.E2049K			Q8IVL0	NAV3_HUMAN	neuron navigator 3	2071						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CAAACTTGCTGAATATGTAAT	0.373000										HNSCC(70;0.22)			10	40					0	0	0.058154	0	0
C3	718	broad.mit.edu	37	19	6685055	6685055	+	Missense_Mutation	SNP	A	A	G			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr19:6685055A>G	ENST00000245907.6	-	30	4005	c.3913T>C	c.(3913-3915)Tcc>Ccc	p.S1305P		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	1305					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		GTGATCTTGGAGCTGCGGCTG	0.582000													3	52					0	0	0.115264	0	0
L3MBTL3	84456	broad.mit.edu	37	6	130425615	130425615	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr6:130425615G>A	ENST00000529410.1	+	21	2260	c.1781G>A	c.(1780-1782)cGt>cAt	p.R594H	L3MBTL3_ENST00000533560.1_Missense_Mutation_p.R569H|L3MBTL3_ENST00000526019.1_Missense_Mutation_p.R569H|L3MBTL3_ENST00000368136.2_Missense_Mutation_p.R594H|L3MBTL3_ENST00000368139.2_Missense_Mutation_p.R569H|L3MBTL3_ENST00000361794.2_Missense_Mutation_p.R594H			Q96JM7	LMBL3_HUMAN	l(3)mbt-like 3 (Drosophila)	594					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1)	43				GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)		AATAAAGACCGTATTTTTCCA	0.383000													31	61					0	0	0.163468	0	0
FAM221A	340277	broad.mit.edu	37	7	23731200	23731200	+	Missense_Mutation	SNP	G	G	C			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr7:23731200G>C	ENST00000344962.4	+	4	711	c.622G>C	c.(622-624)Gat>Cat	p.D208H	FAM221A_ENST00000409192.3_Missense_Mutation_p.D208H|FAM221A_ENST00000409653.1_Missense_Mutation_p.D150H|FAM221A_ENST00000409994.3_Missense_Mutation_p.D150H	NM_199136.3	NP_954587.2	A4D161	CG046_HUMAN	family with sequence similarity 221, member A	208																	CATGCGGTTAGATGACAGTGG	0.423000													23	52					0	0	0.091800	0	0
SHANK2	22941	broad.mit.edu	37	11	70332944	70332944	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr11:70332944C>T	ENST00000338508.4	-	32	3456	c.3457G>A	c.(3457-3459)Gag>Aag	p.E1153K	SHANK2_ENST00000423696.2_Missense_Mutation_p.E773K|SHANK2_ENST00000449833.2_Missense_Mutation_p.E557K|SHANK2_ENST00000409161.1_Missense_Mutation_p.E556K			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	773					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding	p.E1153K(1)|p.E557K(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			TTTTCGGGCTCCCTGGGCGTG	0.677000													21	50					0	0	0.204396	0	0
TBC1D3P2	440452	broad.mit.edu	37	17	60351457	60351457	+	Silent	SNP	G	G	A	rs4968502	by1000genomes	TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr17:60351457G>A	ENST00000602932.1	-	2	234	c.204C>T	c.(202-204)cgC>cgT	p.R68R	TBC1D3P2_ENST00000581291.1_RNA																							CCAACTACCCGCGACCTCTAC	0.537000													6	188					0	0	0.038147	0	0
HIF3A	64344	broad.mit.edu	37	19	46842835	46842835	+	Missense_Mutation	SNP	G	G	A	rs143456536		TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr19:46842835G>A	ENST00000339613.2	+	15	2053	c.1798G>A	c.(1798-1800)Ggg>Agg	p.G600R	HIF3A_ENST00000377670.4_Missense_Mutation_p.G656R|AC007193.10_ENST00000596807.1_RNA|HIF3A_ENST00000300862.3_Missense_Mutation_p.G654R|HIF3A_ENST00000244303.6_Missense_Mutation_p.G587R			Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit	656					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		TACCCAGCCCGGGGGCCCCTT	0.577000													15	74					0	0	0.175082	0	0
PLA2G12B	84647	broad.mit.edu	37	10	74700977	74700977	+	Missense_Mutation	SNP	G	G	C			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr10:74700977G>C	ENST00000373032.3	-	3	508	c.416C>G	c.(415-417)tCg>tGg	p.S139W		NM_032562.2	NP_115951.2	Q9BX93	PG12B_HUMAN	phospholipase A2, group XIIB	139					lipid catabolic process	extracellular region	calcium ion binding|phospholipase A2 activity			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)|skin(2)	9	Prostate(51;0.0198)					AGAGCAGATCGAGTGGAGACA	0.498000													25	70					0	0	0.083992	0	0
SLC26A11	284129	broad.mit.edu	37	17	78211342	78211342	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr17:78211342G>A	ENST00000361193.3	+	9	1214	c.934G>A	c.(934-936)Gtg>Atg	p.V312M	SLC26A11_ENST00000411502.3_Missense_Mutation_p.V312M|SLC26A11_ENST00000572725.1_Missense_Mutation_p.V312M|SLC26A11_ENST00000546047.2_Missense_Mutation_p.V312M	NM_001166347.1|NM_173626.3	NP_001159819.1|NP_775897.3	Q86WA9	S2611_HUMAN	solute carrier family 26 (anion exchanger), member 11	312						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|plasma membrane	anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	28	all_neural(118;0.0538)		OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			CGGGCTGGCCGTGGTGCCCCT	0.642000													7	11					0	0	0.029380	0	0
CHD3	1107	broad.mit.edu	37	17	7800529	7800529	+	Silent	SNP	G	G	A			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr17:7800529G>A	ENST00000380358.4	+	11	2014	c.2013G>A	c.(2011-2013)ccG>ccA	p.P671P	CHD3_ENST00000330494.7_Silent_p.P612P|CHD3_ENST00000358181.4_Silent_p.P612P	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	612	Chromo 2.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				TGAAAGACCCGCACTATGCTG	0.542000													17	45					0	0	0.160694	0	0
GPLD1	2822	broad.mit.edu	37	6	24437398	24437398	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr6:24437398G>A	ENST00000230036.1	-	21	2250	c.2140C>T	c.(2140-2142)Cgc>Tgc	p.R714C		NM_001503.3	NP_001494.2	P80108	PHLD_HUMAN	glycosylphosphatidylinositol specific phospholipase D1	714						extracellular region	glycosylphosphatidylinositol phospholipase D activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						CGGGAGAAGCGGCGGTCTCCG	0.552000													15	43					0	0	0.119110	0	0
NEMF	9147	broad.mit.edu	37	14	50318366	50318366	+	Missense_Mutation	SNP	G	G	T			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr14:50318366G>T	ENST00000298310.5	-	3	595	c.146C>A	c.(145-147)aCa>aAa	p.T49K	NEMF_ENST00000546046.1_Missense_Mutation_p.T49K|NEMF_ENST00000545773.1_Missense_Mutation_p.T49K|NEMF_ENST00000556672.1_Missense_Mutation_p.T49K			O60524	NEMF_HUMAN	nuclear export mediator factor	49						cytoplasm|nucleus				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(13)|liver(1)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	36						AAGTAAAAGTGTAGCTTTAAA	0.353000													4	59					0.000602214	0.000624401	0.184627	1	0
ZAN	7455	broad.mit.edu	37	7	100391590	100391590	+	RNA	SNP	G	G	A	rs143981169	by1000genomes	TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr7:100391590G>A	ENST00000542585.1	+	0	8146				ZAN_ENST00000427578.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000443370.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			GTGGCACCCAGAGCCTCCCCT	0.672000													5	17					0	0	0.184627	0	0
PARD6B	84612	broad.mit.edu	37	20	49354499	49354499	+	Missense_Mutation	SNP	G	G	A	rs142377445		TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr20:49354499G>A	ENST00000371610.2	+	2	415	c.172G>A	c.(172-174)Gtt>Att	p.V58I	PARD6B_ENST00000396039.1_Missense_Mutation_p.V58I	NM_032521.2	NP_115910.1	Q9BYG5	PAR6B_HUMAN	par-6 family cell polarity regulator beta	58	OPR.				axonogenesis|cell cycle|cell division|establishment or maintenance of cell polarity|protein complex assembly|regulation of cell migration|tight junction assembly	cytosol|tight junction	protein binding			NS(1)|breast(1)|endometrium(1)|kidney(4)|lung(3)|urinary_tract(1)	11						CAATGTTGACGTTTTGGTAGG	0.383000													35	37					0	0	0.193644	0	0
RASA1	5921	broad.mit.edu	37	5	86675667	86675667	+	Splice_Site	SNP	C	C	T	rs138785106	by1000genomes	TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr5:86675667C>T	ENST00000456692.2	+	19	2187	c.2072_splice	c.e19+1	p.P691_splice	RASA1_ENST00000274376.6_Splice_Site_p.P868_splice|RASA1_ENST00000512763.1_Splice_Site_p.P701_splice|RASA1_ENST00000506290.1_Splice_Site_p.P702_splice	NM_022650.2	NP_072179.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	868					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)		ATACTTCCACCGTAAGTGGTG	0.303000													19	27					0	0	0.189662	0	0
LACE1	246269	broad.mit.edu	37	6	108723212	108723212	+	Missense_Mutation	SNP	A	A	G			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr6:108723212A>G	ENST00000368977.4	+	7	947	c.761A>G	c.(760-762)aAt>aGt	p.N254S		NM_145315.3	NP_660358.2	Q8WV93	LACE1_HUMAN	lactation elevated 1	254							ATP binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15		all_cancers(87;1.5e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;6.79e-05)|Colorectal(196;0.0294)|all_lung(197;0.0486)|Lung SC(18;0.152)		BRCA - Breast invasive adenocarcinoma(108;0.00179)|Epithelial(106;0.0024)|all cancers(137;0.00379)|OV - Ovarian serous cystadenocarcinoma(136;0.0118)		CTCTATAAAAATGGACTCCAA	0.284000													3	11					0	0	0.150653	0	0
HCFC2	29915	broad.mit.edu	37	12	104496888	104496888	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr12:104496888C>T	ENST00000229330.4	+	15	2320	c.2216C>T	c.(2215-2217)aCa>aTa	p.T739I	HCFC2_ENST00000550335.1_3'UTR	NM_013320.2	NP_037452.1	Q9Y5Z7	HCFC2_HUMAN	host cell factor C2	739	Fibronectin type-III 3.				regulation of transcription from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleus	transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						GGTCTTAAGACATCATGTATA	0.388000													6	105					0	0	0.038147	0	0
TBX21	30009	broad.mit.edu	37	17	45822604	45822604	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr17:45822604G>A	ENST00000177694.1	+	6	1691	c.1480G>A	c.(1480-1482)Gaa>Aaa	p.E494K		NM_013351.1	NP_037483.1	Q9UL17	TBX21_HUMAN	T-box 21	494					lymphocyte migration|multicellular organismal development|positive regulation of transcription, DNA-dependent|response to virus	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	p.E494K(1)		NS(1)|endometrium(1)|large_intestine(3)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	22						AGGACTGGGCGAAGGAGACTC	0.617000													11	31					0	0	0.093190	0	0
MYO5A	4644	broad.mit.edu	37	15	52664414	52664414	+	Silent	SNP	G	G	C			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr15:52664414G>C	ENST00000399231.3	-	21	2967	c.2724C>G	c.(2722-2724)ctC>ctG	p.L908L	MYO5A_ENST00000399233.2_Silent_p.L908L|MYO5A_ENST00000358212.6_Silent_p.L908L|MYO5A_ENST00000356338.6_Silent_p.L908L|MYO5A_ENST00000553916.1_Silent_p.L908L	NM_000259.3	NP_000250.3	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	908	IQ 6.				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		CCTCGATTTTGAGCTTCTTTA	0.537000													11	25					0	0	0.119110	0	0
SLC19A3	80704	broad.mit.edu	37	2	228563678	228563678	+	Silent	SNP	G	G	A			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr2:228563678G>A	ENST00000258403.3	-	3	824	c.753C>T	c.(751-753)agC>agT	p.S251S	SLC19A3_ENST00000541617.1_Silent_p.S247S|SLC19A3_ENST00000409287.1_Intron	NM_025243.3	NP_079519.1	Q9BZV2	S19A3_HUMAN	solute carrier family 19 (thiamine transporter), member 3	251					thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|reduced folate carrier activity|thiamine uptake transmembrane transporter activity			breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|skin(3)	30		Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236)		Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125)	L-Cysteine(DB00151)	TTGGTTTCAGGCTGTTCAGCT	0.473000													22	40					0	0	0.234183	0	0
USH1G	124590	broad.mit.edu	37	17	72915913	72915913	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr17:72915913C>T	ENST00000319642.1	-	2	1200	c.1018G>A	c.(1018-1020)Gga>Aga	p.G340R		NM_173477.2	NP_775748.2	Q495M9	USH1G_HUMAN	Usher syndrome 1G (autosomal recessive)	340					equilibrioception|photoreceptor cell maintenance|sensory perception of sound	actin cytoskeleton			HN1/USH1G(2)	endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(3)	14	all_lung(278;0.172)|Lung NSC(278;0.207)					CGCGGCGCTCCCACCCCATCC	0.687000													18	82					0	0	0.204396	0	0
LAMP5	24141	broad.mit.edu	37	20	9510395	9510395	+	Silent	SNP	C	C	T			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr20:9510395C>T	ENST00000246070.2	+	6	1263	c.771C>T	c.(769-771)caC>caT	p.H257H	LAMP5_ENST00000427562.2_Silent_p.H213H	NM_012261.3	NP_036393.1	Q9UJQ1	CT103_HUMAN	lysosomal-associated membrane protein family, member 5	257						integral to membrane											CGATTTACCACGTCCACCACA	0.552000													12	41					0	0	0.080935	0	0
ARHGAP35	2909	broad.mit.edu	37	19	47423751	47423751	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr19:47423751G>A	ENST00000404338.3	+	1	1819	c.1819G>A	c.(1819-1821)Ggc>Agc	p.G607S		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	607					axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity										GGGCAAAGACGGCCTTGCCCG	0.433000													62	97					0	0	0.139131	0	0
GBA3	57733	broad.mit.edu	37	4	22820363	22820363	+	RNA	SNP	C	C	G			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr4:22820363C>G	ENST00000508166.1	+	0	1329				GBA3_ENST00000511446.1_RNA|GBA3_ENST00000508264.1_RNA|GBA3_ENST00000503442.1_RNA	NM_020973.4	NP_066024.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity			breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TTGATAAAGTCAATCTTCAAG	0.393000													7	12					0	0	0.029380	0	0
CACNA1C	775	broad.mit.edu	37	12	2566851	2566851	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr12:2566851C>T	ENST00000399655.1	+	5	1001	c.736C>T	c.(736-738)Cgg>Tgg	p.R246W	CACNA1C_ENST00000335762.5_Missense_Mutation_p.R246W|CACNA1C_ENST00000399649.1_Missense_Mutation_p.R246W|CACNA1C_ENST00000399641.1_Missense_Mutation_p.R246W|CACNA1C_ENST00000402845.3_Missense_Mutation_p.R246W|CACNA1C_ENST00000399591.1_Missense_Mutation_p.R246W|CACNA1C_ENST00000399634.1_Missense_Mutation_p.R246W|CACNA1C_ENST00000399595.1_Missense_Mutation_p.R246W|CACNA1C_ENST00000399621.1_Missense_Mutation_p.R246W|CACNA1C_ENST00000480911.1_Missense_Mutation_p.R246W|CACNA1C_ENST00000344100.3_Missense_Mutation_p.R246W|CACNA1C_ENST00000399617.1_Missense_Mutation_p.R246W|CACNA1C_ENST00000399644.1_Missense_Mutation_p.R246W|CACNA1C_ENST00000399597.1_Missense_Mutation_p.R246W|CACNA1C_ENST00000399606.1_Missense_Mutation_p.R246W|CACNA1C_ENST00000399638.1_Missense_Mutation_p.R246W|CACNA1C_ENST00000406454.3_Missense_Mutation_p.R246W|CACNA1C_ENST00000399637.1_Missense_Mutation_p.R246W|CACNA1C_ENST00000399603.1_Missense_Mutation_p.R246W|CACNA1C_ENST00000399629.1_Missense_Mutation_p.R246W|CACNA1C_ENST00000327702.7_Missense_Mutation_p.R246W|CACNA1C_ENST00000399601.1_Missense_Mutation_p.R246W|CACNA1C_ENST00000347598.4_Missense_Mutation_p.R246W	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	246					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	GCGCCCCCTGCGGCTGGTGTC	0.567000													71	187					0	0	0.139131	0	0
MAP3K9	4293	broad.mit.edu	37	14	71209185	71209185	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr14:71209185G>A	ENST00000554752.2	-	6	1449	c.1450C>T	c.(1450-1452)Ctc>Ttc	p.L484F	MAP3K9_ENST00000555993.2_Missense_Mutation_p.L484F|MAP3K9_ENST00000554146.1_Missense_Mutation_p.L221F|MAP3K9_ENST00000381250.4_Missense_Mutation_p.L484F|MAP3K9_ENST00000553414.1_Missense_Mutation_p.L178F			P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	484	Leucine-zipper 2.				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		ATGATGTTGAGCTCCCGTTCC	0.617000													14	35					0	0	0.119110	0	0
TRPC1	7220	broad.mit.edu	37	3	142511763	142511763	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr3:142511763G>A	ENST00000273482.6	+	8	1824	c.1433G>A	c.(1432-1434)cGt>cAt	p.R478H	TRPC1_ENST00000476941.1_Missense_Mutation_p.R512H	NM_003304.4	NP_003295.1	P48995	TRPC1_HUMAN	transient receptor potential cation channel, subfamily C, member 1	512					axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion	cytosol|integral to plasma membrane	protein binding|store-operated calcium channel activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						AGTTATCTTCGTCTCTTTTTT	0.338000													12	35					0	0	0.080935	0	0
NUMA1	4926	broad.mit.edu	37	11	71721849	71721849	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr11:71721849G>A	ENST00000393695.3	-	17	5033	c.4702C>T	c.(4702-4704)Cag>Tag	p.Q1568*	NUMA1_ENST00000351960.6_Nonsense_Mutation_p.Q432*|NUMA1_ENST00000358965.6_Nonsense_Mutation_p.Q1554*	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	1568					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						TTCTGCTGCTGCACCTTGCTG	0.592000			T	RARA	APL								67	221					0	0	0.139131	0	0
MSL3P1	151507	broad.mit.edu	37	2	234775957	234775957	+	RNA	SNP	G	G	C			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr2:234775957G>C	ENST00000438684.1	-	0	157					NR_024322.1																						ACTGCTTAATGAGTTTTCATC	0.388000													5	7					0	0	0.184627	0	0
HTR3D	200909	broad.mit.edu	37	3	183756386	183756386	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr3:183756386C>T	ENST00000382489.3	+	7	1109	c.1109C>T	c.(1108-1110)cCg>cTg	p.P370L	HTR3D_ENST00000334128.2_Missense_Mutation_p.P195L|HTR3D_ENST00000428798.2_Missense_Mutation_p.P320L|HTR3D_ENST00000453435.1_Missense_Mutation_p.P149L	NM_001163646.1	NP_001157118.1	Q70Z44	5HT3D_HUMAN	5-hydroxytryptamine (serotonin) receptor 3D, ionotropic	370						integral to membrane|plasma membrane	extracellular ligand-gated ion channel activity|receptor activity			large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)	10	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;6.23e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			AATAAGGGCCCGGGTCTCACC	0.652000													6	18					0	0	0.217242	0	0
GPR160	26996	broad.mit.edu	37	3	169801877	169801877	+	Silent	SNP	T	T	C			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr3:169801877T>C	ENST00000355897.5	+	4	725	c.117T>C	c.(115-117)aaT>aaC	p.N39N		NM_014373.2	NP_055188.1	Q9UJ42	GP160_HUMAN	G protein-coupled receptor 160	39						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|cervix(1)|kidney(1)|large_intestine(3)|lung(2)	8	all_cancers(22;3.26e-22)|all_epithelial(15;5.71e-27)|all_lung(20;8.41e-17)|Lung NSC(18;3.49e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			TATTATTAAATATCCTTACAC	0.328000													19	34					0	0	0.175082	0	0
UMOD	7369	broad.mit.edu	37	16	20348717	20348717	+	Missense_Mutation	SNP	C	C	A			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr16:20348717C>A	ENST00000396134.2	-	9	1858	c.1735G>T	c.(1735-1737)Ggc>Tgc	p.G579C	UMOD_ENST00000424589.1_Missense_Mutation_p.G579C|UMOD_ENST00000570689.1_Missense_Mutation_p.G546C|UMOD_ENST00000396138.4_Missense_Mutation_p.G595C|UMOD_ENST00000396142.2_Missense_Mutation_p.G546C|UMOD_ENST00000570331.1_5'UTR|UMOD_ENST00000302509.4_Missense_Mutation_p.G546C	NM_001278614.1	NP_001265543.1	P07911	UROM_HUMAN	uromodulin	546	ZP.				cellular defense response|negative regulation of cell proliferation	anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole	calcium ion binding			endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						GAAAATCGGCCCTGGGAGGAC	0.463000													14	29					7.93312e-07	8.54003e-07	0.119110	1	0
LHX9	56956	broad.mit.edu	37	1	197889131	197889131	+	Silent	SNP	C	C	T			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr1:197889131C>T	ENST00000367390.3	+	3	204	c.177C>T	c.(175-177)ccC>ccT	p.P59P	LHX9_ENST00000367387.4_Silent_p.P68P|LHX9_ENST00000337020.2_Silent_p.P68P|LHX9_ENST00000561173.1_Silent_p.P74P|LHX9_ENST00000367391.1_Silent_p.P59P	NM_001014434.1	NP_001014434.1	Q9NQ69	LHX9_HUMAN	LIM homeobox 9	68					motor axon guidance|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1)	35						CGGAGAAGCCCGCCCTGTGCG	0.642000													30	81					0	0	0.153744	0	0
PHF20L1	51105	broad.mit.edu	37	8	133848943	133848943	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr8:133848943G>A	ENST00000395386.2	+	16	2367	c.2068G>A	c.(2068-2070)Gag>Aag	p.E690K	PHF20L1_ENST00000395390.2_Missense_Mutation_p.E665K|PHF20L1_ENST00000220847.7_Missense_Mutation_p.E77K	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1	690							nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			TGAGATGGATGAGGAGAATGG	0.388000													14	70					0	0	0.132662	0	0
DUS3L	56931	broad.mit.edu	37	19	5789493	5789493	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr19:5789493C>T	ENST00000309061.7	-	3	721	c.625G>A	c.(625-627)Ggc>Agc	p.G209S	DUS3L_ENST00000320699.8_Intron|DUS3L_ENST00000590681.1_5'UTR	NM_020175.2	NP_064560.2	Q96G46	DUS3L_HUMAN	dihydrouridine synthase 3-like (S. cerevisiae)	209					tRNA processing		flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2)	14						TTGTCCAGGCCGTTGCGGATG	0.726000													5	9					0	0	0.184627	0	0
HSPG2	3339	broad.mit.edu	37	1	22205082	22205082	+	Missense_Mutation	SNP	C	C	A			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr1:22205082C>A	ENST00000374695.3	-	19	2625	c.2546G>T	c.(2545-2547)cGc>cTc	p.R849L		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	849	Laminin EGF-like 3.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	CTCACAGCGGCGGCCAGTGTA	0.632000													8	31					0.000274275	0.000288942	0.047766	1	0
PCDHA7	56141	broad.mit.edu	37	5	140216300	140216300	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr5:140216300C>T	ENST00000525929.1	+	1	2332	c.2332C>T	c.(2332-2334)Cag>Tag	p.Q778*	PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000378125.3_Nonsense_Mutation_p.Q778*|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018910.2	NP_061733.1														NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGCCTTCCTCAGGGTCCATC	0.478000													20	11					0	0	0.219247	0	0
PGM2	55276	broad.mit.edu	37	4	37848660	37848660	+	Silent	SNP	G	G	A	rs146573335	by1000genomes	TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr4:37848660G>A	ENST00000381967.4	+	9	1216	c.1116G>A	c.(1114-1116)acG>acA	p.T372T	PGM2_ENST00000544359.1_Silent_p.T233T|PGM2_ENST00000537241.1_Silent_p.T212T	NM_018290.3	NP_060760.2	Q96G03	PGM2_HUMAN	phosphoglucomutase 2	372					glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity|phosphopentomutase activity			breast(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	19						TCAAAGACACGTACATGTTGT	0.498000													37	104					0	0	0.203993	0	0
MYH9	4627	broad.mit.edu	37	22	36708123	36708123	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr22:36708123C>T	ENST00000216181.5	-	14	1929	c.1699G>A	c.(1699-1701)Gat>Aat	p.D567N		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	567	Myosin head-like.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						ATGCAGAAATCAGCTTTGTCC	0.582000			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated				27	28					0	0	0.116897	0	0
BIRC7	79444	broad.mit.edu	37	20	61870794	61870794	+	Missense_Mutation	SNP	G	G	T			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr20:61870794G>T	ENST00000217169.3	+	6	948	c.734G>T	c.(733-735)cGg>cTg	p.R245L	BIRC7_ENST00000342412.6_Missense_Mutation_p.R227L|BIRC7_ENST00000395306.1_Missense_Mutation_p.R140L	NM_139317.1	NP_647478.1	Q96CA5	BIRC7_HUMAN	baculoviral IAP repeat containing 7	245					activation of JUN kinase activity|anti-apoptosis|DNA fragmentation involved in apoptotic nuclear change	cytoplasm|nucleus	enzyme binding|zinc ion binding			endometrium(1)|kidney(1)|lung(9)|ovary(1)	12	all_cancers(38;2.72e-09)					CAGCTGCGGCGGCTGCAGGAG	0.692000													27	31					4.39465e-27	5.06284e-27	0.173368	1	0
C4orf33	132321	broad.mit.edu	37	4	130030466	130030466	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr4:130030466G>A	ENST00000281146.4	+	4	968	c.247G>A	c.(247-249)Gga>Aga	p.G83R	C4orf33_ENST00000425929.1_Missense_Mutation_p.G83R|C4orf33_ENST00000502887.1_Missense_Mutation_p.G83R	NM_173487.2	NP_775758.2	Q8N1A6	CD033_HUMAN	chromosome 4 open reading frame 33	83										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	10						TGACAGCCACGGACAGCATTT	0.328000													27	87					0	0	0.144211	0	0
WNK4	65266	broad.mit.edu	37	17	40940718	40940718	+	Missense_Mutation	SNP	G	G	C			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr17:40940718G>C	ENST00000246914.5	+	11	2081	c.2060G>C	c.(2059-2061)aGa>aCa	p.R687T		NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	687					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)		CAGAATGACAGAGTGGTTGAG	0.532000													13	37					0	0	0.093190	0	0
RBP3	5949	broad.mit.edu	37	10	48390514	48390514	+	Missense_Mutation	SNP	G	G	A	rs150932600	by1000genomes	TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr10:48390514G>A	ENST00000224600.4	-	1	477	c.364C>T	c.(364-366)Cgc>Tgc	p.R122C		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	122	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	ACCTCATGGCGGAGGCCCCTT	0.642000													29	70					0	0	0.134883	0	0
RP11-407N17.3	0	broad.mit.edu	37	14	39716136	39716136	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr14:39716136C>T	ENST00000553728.1	+	4	571	c.358C>T	c.(358-360)Ctt>Ttt	p.L120F	MIA2_ENST00000280082.3_Missense_Mutation_p.L120F|MIA2_ENST00000556784.1_Missense_Mutation_p.L119F																							TCTTTGTCTTCTTGGAGTAAG	0.294000													5	19					0	0	0.184627	0	0
HSPG2	3339	broad.mit.edu	37	1	22191363	22191363	+	Silent	SNP	C	C	T			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr1:22191363C>T	ENST00000374695.3	-	36	4678	c.4599G>A	c.(4597-4599)ccG>ccA	p.P1533P		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	1533	Laminin EGF-like 9; second part.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	TGTAGCCTGGCGGGCAGCGGC	0.687000													4	11					0	0	0.184627	0	0
KCNJ5	3762	broad.mit.edu	37	11	128781352	128781352	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr11:128781352G>A	ENST00000529694.1	+	2	560	c.184G>A	c.(184-186)Gtg>Atg	p.V62M	KCNJ5_ENST00000533599.1_Missense_Mutation_p.V62M|KCNJ5_ENST00000338350.4_Missense_Mutation_p.V62M	NM_000890.3	NP_000881.3	P48544	IRK5_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 5	62					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glibenclamide(DB01016)	CAAGTGCAACGTGCACCACGG	0.607000													28	66					0	0	0.108266	0	0
KCND2	3751	broad.mit.edu	37	7	119915562	119915562	+	Silent	SNP	C	C	T			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr7:119915562C>T	ENST00000331113.4	+	1	1841	c.876C>T	c.(874-876)ctC>ctT	p.L292L		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	292					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					TTGTCACACTCCGAGTCTTCC	0.527000													12	23					0	0	0.093190	0	0
DSCAM	1826	broad.mit.edu	37	21	41561106	41561106	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr21:41561106C>T	ENST00000400454.1	-	12	2893	c.2416G>A	c.(2416-2418)Gag>Aag	p.E806K		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	806	Ig-like C2-type 9.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	p.E806K(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CAGCTCATCTCCTTTTTCTGC	0.507000													23	45					0	0	0.234183	0	0
MBNL1	4154	broad.mit.edu	37	3	152173353	152173353	+	Silent	SNP	C	C	T			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr3:152173353C>T	ENST00000324210.5	+	7	1903	c.984C>T	c.(982-984)ccC>ccT	p.P328P	MBNL1_ENST00000492948.1_Silent_p.P328P|MBNL1_ENST00000355460.2_Intron|MBNL1_ENST00000282488.7_Intron|MBNL1_ENST00000463374.1_Intron|MBNL1_ENST00000493459.1_Silent_p.P289P|MBNL1_ENST00000282486.6_Intron|MBNL1_ENST00000498502.1_Intron|MBNL1_ENST00000485509.1_Intron|MBNL1_ENST00000545754.1_Silent_p.P260P|MBNL1_ENST00000485910.1_Intron|MBNL1_ENST00000324196.5_Intron|MBNL1_ENST00000357472.3_Silent_p.P328P	NM_021038.3	NP_066368.2	Q9NR56	MBNL1_HUMAN	muscleblind-like splicing regulator 1	338					embryonic limb morphogenesis|in utero embryonic development|myoblast differentiation|nervous system development	nucleus|stress granule	double-stranded RNA binding|protein binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			GCATGACACCCGCTACAAGTG	0.408000													22	63					0	0	0.234183	0	0
FCRL5	83416	broad.mit.edu	37	1	157509002	157509002	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr1:157509002C>T	ENST00000361835.3	-	7	1433	c.1276G>A	c.(1276-1278)Gcc>Acc	p.A426T	FCRL5_ENST00000356953.4_Missense_Mutation_p.A426T|FCRL5_ENST00000368191.3_Missense_Mutation_p.A341T|FCRL5_ENST00000368189.3_Missense_Mutation_p.A426T|FCRL5_ENST00000368190.3_Missense_Mutation_p.A426T	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	426	Ig-like C2-type 4.					integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				GCAGAGTTGGCCGACCTACGC	0.572000													3	41					0	0	0.115264	0	0
UNC13B	10497	broad.mit.edu	37	9	35377547	35377547	+	Silent	SNP	C	C	T			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr9:35377547C>T	ENST00000378495.3	+	15	1893	c.1671C>T	c.(1669-1671)atC>atT	p.I557I	UNC13B_ENST00000396787.1_Silent_p.I569I|UNC13B_ENST00000378496.4_Silent_p.I557I	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	557					excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			GCATGAAGATCCGAGAGCGAA	0.507000													16	265					0	0	0.146539	0	0
RASA1	5921	broad.mit.edu	37	5	86675668	86675668	+	Splice_Site	SNP	G	G	T			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr5:86675668G>T	ENST00000456692.2	+	19	2187		c.e19+1		RASA1_ENST00000274376.6_Splice_Site|RASA1_ENST00000512763.1_Splice_Site|RASA1_ENST00000506290.1_Splice_Site	NM_022650.2	NP_072179.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1						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)		TACTTCCACCGTAAGTGGTGA	0.303000													18	24					1.67942e-08	1.81783e-08	0.175082	1	0
SLC12A4	6560	broad.mit.edu	37	16	67979117	67979117	+	Silent	SNP	T	T	C	rs150617520		TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr16:67979117T>C	ENST00000422611.2	-	22	3084	c.3045A>G	c.(3043-3045)caA>caG	p.Q1015Q	SLC12A4_ENST00000572037.1_Silent_p.Q965Q|SLC12A4_ENST00000576616.1_Silent_p.Q1013Q|SLC12A4_ENST00000541864.2_Silent_p.Q982Q|SLC12A4_ENST00000537830.2_Silent_p.Q1007Q|SLC12A4_ENST00000338335.3_3'UTR|SLC12A4_ENST00000316341.3_Silent_p.Q1013Q	NM_001145962.1	NP_001139434.1	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 4	1013					cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	GCACATTGGATTGGTCCCTAC	0.592000													14	49					0	0	0.146539	0	0
TTC27	55622	broad.mit.edu	37	2	33036234	33036234	+	Silent	SNP	G	G	A			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr2:33036234G>A	ENST00000317907.4	+	17	2373	c.2142G>A	c.(2140-2142)ctG>ctA	p.L714L		NM_001193509.1|NM_017735.4	NP_001180438.1|NP_060205.3	Q6P3X3	TTC27_HUMAN	tetratricopeptide repeat domain 27	714							protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38						TCTGGAGGCTGTATGCCCACG	0.453000													8	32					0	0	0.038147	0	0
SYNE2	23224	broad.mit.edu	37	14	64565540	64565540	+	Splice_Site	SNP	G	G	A			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr14:64565540G>A	ENST00000357395.3	+	64	12680		c.e64+1		SYNE2_ENST00000358025.3_Splice_Site|SYNE2_ENST00000344113.4_Splice_Site|SYNE2_ENST00000554584.1_Splice_Site|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000394768.2_Splice_Site|SYNE2_ENST00000555002.1_Splice_Site			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2						centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GAAGAGCGATGTAAGGGAAAT	0.388000													5	19					0	0	0.184627	0	0
HES6	55502	broad.mit.edu	37	2	239147619	239147619	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr2:239147619G>A	ENST00000272937.5	-	4	742	c.524C>T	c.(523-525)cCg>cTg	p.P175L	HES6_ENST00000409574.1_3'UTR|HES6_ENST00000409160.3_3'UTR|HES6_ENST00000409002.3_Missense_Mutation_p.P173L|HES6_ENST00000409182.1_Missense_Mutation_p.P146L|AC096574.4_ENST00000456601.1_RNA			Q96HZ4	HES6_HUMAN	hes family bHLH transcription factor 6	175					cell differentiation	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			lung(1)|skin(1)	2		Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.23e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.29e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.19e-08)|BRCA - Breast invasive adenocarcinoma(100;5.98e-05)|Lung(119;0.0086)|LUSC - Lung squamous cell carcinoma(224;0.0148)		CCCAGGACCCGGGGGGCTGGG	0.726000													5	13					0	0	0.029380	0	0
TPTE2P2	644623	broad.mit.edu	37	13	52864041	52864041	+	RNA	SNP	T	T	C			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr13:52864041T>C	ENST00000451298.1	-	0	128				RP11-64P12.8_ENST00000606031.1_RNA																							CAAAGGAATATAAACTTTGCT	0.308000													7	10					0	0	0.029380	0	0
KRTAP1-5	83895	broad.mit.edu	37	17	39183145	39183145	+	Missense_Mutation	SNP	A	A	G			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr17:39183145A>G	ENST00000361883.5	-	1	309	c.263T>C	c.(262-264)aTc>aCc	p.I88T		NM_031957.1	NP_114163.1	Q9BYS1	KRA15_HUMAN	keratin associated protein 1-5	88	15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP].					keratin filament		p.I88T(11)		central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	17		Breast(137;0.00043)	STAD - Stomach adenocarcinoma(17;0.000371)			GCAGGAGCTGATCTGGCAGCA	0.632000													3	34					0	0	0.184627	0	0
TP53	7157	broad.mit.edu	37	17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	rs11540652		TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr17:7577538C>T	ENST00000420246.2	-	7	875	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_ENST00000359597.4_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q|TP53_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000269305.4_Missense_Mutation_p.R248Q	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GATGGGCCTCCGGTTCATGCC	0.572000	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			6	35					0	0	0.029380	0	0
NRBP2	340371	broad.mit.edu	37	8	144919579	144919579	+	Splice_Site	SNP	C	C	T			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr8:144919579C>T	ENST00000442628.2	-	12	1215	c.1076_splice	c.e12+1	p.R359_splice	NRBP2_ENST00000327830.5_Splice_Site_p.R116_splice	NM_178564.3	NP_848659.2	Q9NSY0	NRBP2_HUMAN	nuclear receptor binding protein 2	359					negative regulation of neuron apoptosis|neuron differentiation	cytoplasm	ATP binding|protein kinase activity			central_nervous_system(2)|kidney(1)|large_intestine(2)	5	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			GACTGCTCACCGCCACTGCAG	0.701000													4	9					0	0	0.150653	0	0
TDP1	55775	broad.mit.edu	37	14	90485752	90485752	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr14:90485752C>T	ENST00000335725.4	+	15	1884	c.1634C>T	c.(1633-1635)cCt>cTt	p.P545L	TDP1_ENST00000393452.3_Missense_Mutation_p.P545L|TDP1_ENST00000555880.1_Missense_Mutation_p.P545L|TDP1_ENST00000393454.2_Missense_Mutation_p.P545L|TDP1_ENST00000357382.3_Missense_Mutation_p.P306L	NM_018319.3	NP_060789.2	Q9NUW8	TYDP1_HUMAN	tyrosyl-DNA phosphodiesterase 1	545					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)		CTTTTCCTCCCTTCAGCATTT	0.512000								Repair of DNA-protein crosslinks					7	15					0	0	0.038147	0	0
PAX4	5078	broad.mit.edu	37	7	127255554	127255554	+	Silent	SNP	G	G	C			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr7:127255554G>C	ENST00000341640.2	-	1	226	c.21C>G	c.(19-21)ctC>ctG	p.L7L	PAX4_ENST00000463946.1_5'UTR|PAX4_ENST00000378740.2_Silent_p.L7L|PAX4_ENST00000338516.3_Silent_p.L15L	NM_006193.2	NP_006184.2	O43316	PAX4_HUMAN	paired box 4	15	Paired.				cell differentiation|endocrine pancreas development|organ morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						CATTCACAAAGAGCCCCCCAA	0.617000													15	81					0	0	0.160694	0	0
TMEM2	23670	broad.mit.edu	37	9	74305092	74305092	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr9:74305092G>A	ENST00000377044.4	-	22	4306	c.3767C>T	c.(3766-3768)cCa>cTa	p.P1256L	TMEM2_ENST00000377066.5_Missense_Mutation_p.P1193L|TMEM2_ENST00000396272.3_Missense_Mutation_p.P249L	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	1256						integral to membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		CAAGCGGAATGGAACGCTGCA	0.478000													23	74					0	0	0.069288	0	0
MLF2	8079	broad.mit.edu	37	12	6857986	6857986	+	Missense_Mutation	SNP	C	C	T	rs71450169		TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr12:6857986C>T	ENST00000203630.5	-	8	1366	c.722G>A	c.(721-723)cGa>cAa	p.R241Q	MLF2_ENST00000539187.1_Missense_Mutation_p.R241Q|MLF2_ENST00000435120.1_Missense_Mutation_p.R241Q|MLF2_ENST00000542154.1_Missense_Mutation_p.R241Q			Q15773	MLF2_HUMAN	myeloid leukemia factor 2	241					defense response	cytoplasm|nucleus	protein binding			kidney(2)|large_intestine(3)|lung(4)	9						GCGGGACTGTCGGGAAGGGGA	0.687000													7	81					0	0	0.047766	0	0
SIGLEC11	114132	broad.mit.edu	37	19	50461907	50461907	+	Silent	SNP	G	G	A	rs139230914		TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr19:50461907G>A	ENST00000447370.2	-	7	1446	c.1356C>T	c.(1354-1356)tcC>tcT	p.S452S	SIGLEC11_ENST00000426971.2_Silent_p.S452S	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN	sialic acid binding Ig-like lectin 11	452	Ig-like C2-type 3.				cell adhesion	integral to membrane	sugar binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		CACAGTGCACGGAGAGGCTGA	0.652000													21	89					0	0	0.234183	0	0
GBA3	57733	broad.mit.edu	37	4	22737769	22737769	+	RNA	SNP	G	G	T			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr4:22737769G>T	ENST00000508166.1	+	0	326				GBA3_ENST00000511446.1_RNA|GBA3_ENST00000503442.1_RNA	NM_020973.4	NP_066024.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity			breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						ACTCATTACCGCTTCTCTCTT	0.433000													28	84					6.07407e-21	6.91672e-21	0.125774	1	0
ADRB1	153	broad.mit.edu	37	10	115804437	115804437	+	Silent	SNP	G	G	A			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr10:115804437G>A	ENST00000369295.2	+	1	632	c.546G>A	c.(544-546)gtG>gtA	p.V182V		NM_000684.2	NP_000675.1	P08588	ADRB1_HUMAN	adrenoceptor beta 1	182					positive regulation of cAMP biosynthetic process	integral to plasma membrane	alpha-2A adrenergic receptor binding|beta1-adrenergic receptor activity|protein heterodimerization activity			large_intestine(4)|lung(1)|upper_aerodigestive_tract(1)	6		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0124)|all cancers(201;0.0298)	Acebutolol(DB01193)|Alprenolol(DB00866)|Amiodarone(DB01118)|Arbutamine(DB01102)|Atenolol(DB00335)|Betaxolol(DB00195)|Bevantolol(DB01295)|Bisoprolol(DB00612)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Desipramine(DB01151)|Dobutamine(DB00841)|Dopamine(DB00988)|Epinephrine(DB00668)|Esmolol(DB00187)|Isoetharine(DB00221)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Metoprolol(DB00264)|Nadolol(DB01203)|Norepinephrine(DB00368)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Practolol(DB01297)|Propranolol(DB00571)|Risperidone(DB00734)|Timolol(DB00373)|Ziprasidone(DB00246)	TGTGCACCGTGTGGGCCATCT	0.692000													11	20					0	0	0.069234	0	0
MUC17	140453	broad.mit.edu	37	7	100686824	100686824	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr7:100686824C>T	ENST00000306151.4	+	3	12191	c.12127C>T	c.(12127-12129)Cgt>Tgt	p.R4043C		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	4043						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)					TGTCACCACCCGTCCTGTGAC	0.537000													40	106					0	0	0.104719	0	0
SMUG1	23583	broad.mit.edu	37	12	54576249	54576249	+	Silent	SNP	G	G	A			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr12:54576249G>A	ENST00000508394.2	-	3	506	c.444C>T	c.(442-444)ctC>ctT	p.L148L	SMUG1_ENST00000401977.2_Silent_p.L148L|SMUG1_ENST00000514196.1_Intron|SMUG1_ENST00000337581.3_Silent_p.L148L|SMUG1_ENST00000514685.1_Intron|SMUG1_ENST00000505128.1_3'UTR|SMUG1_ENST00000505662.1_5'UTR|SMUG1_ENST00000243112.5_Intron|SMUG1_ENST00000506595.1_Intron|SMUG1_ENST00000513838.1_Intron	NM_001243787.1|NM_001243788.1|NM_014311.2	NP_001230716.1|NP_001230717.1|NP_055126.1	Q53HV7	SMUG1_HUMAN	single-strand-selective monofunctional uracil-DNA glycosylase 1	148				Missing (in Ref. 3; BAC03670).	depyrimidination	nucleolus|nucleoplasm	DNA binding|protein binding|single-strand selective uracil DNA N-glycosylase activity			kidney(1)|large_intestine(4)|lung(1)	6						GCTGTCCACAGAGGTTCCGGA	0.567000								Base excision repair (BER), DNA glycosylases					26	70					0	0	0.091800	0	0
RAB25	57111	broad.mit.edu	37	1	156031179	156031179	+	Translation_Start_Site	SNP	A	A	T			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr1:156031179A>T	ENST00000361084.5	+	0	229				RAB25_ENST00000487325.1_3'UTR	NM_020387.2	NP_065120.2	P57735	RAB25_HUMAN	RAB25, member RAS oncogene family						positive regulation of cell proliferation|protein transport|pseudopodium organization|small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle|pseudopodium membrane	GTP binding|identical protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	5	Hepatocellular(266;0.158)|all_neural(408;0.195)					TGCACCCTCCATGCGGAGCCA	0.537000													45	108					0	0	0.139131	0	0
PHKA1	5255	broad.mit.edu	37	X	71800893	71800893	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chrX:71800893C>T	ENST00000373545.3	-	32	3943	c.3505G>A	c.(3505-3507)Gtg>Atg	p.V1169M	PHKA1_ENST00000339490.3_Missense_Mutation_p.V1198M|PHKA1_ENST00000373542.4_Missense_Mutation_p.V1211M|PHKA1_ENST00000541944.1_Missense_Mutation_p.V1139M|PHKA1_ENST00000373539.3_Missense_Mutation_p.V1228M			P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)	1211					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					AACTCCTGCACGTAGGTGGCG	0.567000													7	8					0	0	0.029380	0	0
DOT1L	84444	broad.mit.edu	37	19	2210646	2210646	+	Silent	SNP	G	G	A			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr19:2210646G>A	ENST00000398665.3	+	14	1179	c.1143G>A	c.(1141-1143)gcG>gcA	p.A381A		NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	381						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AAGAGAAGGCGGGAGCAGCCA	0.647000													19	76					0	0	0.234183	0	0
NF2	4771	broad.mit.edu	37	22	30061031	30061031	+	Nonsense_Mutation	SNP	C	C	G			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr22:30061031C>G	ENST00000338641.4	+	9	1304	c.863C>G	c.(862-864)tCa>tGa	p.S288*	NF2_ENST00000361452.4_Nonsense_Mutation_p.S247*|NF2_ENST00000347330.5_Nonsense_Mutation_p.S129*|NF2_ENST00000403435.1_Nonsense_Mutation_p.S288*|NF2_ENST00000353887.4_Nonsense_Mutation_p.S205*|NF2_ENST00000361166.4_Nonsense_Mutation_p.S288*|NF2_ENST00000403999.3_Nonsense_Mutation_p.S288*|NF2_ENST00000397789.3_Nonsense_Mutation_p.S288*|NF2_ENST00000334961.7_Nonsense_Mutation_p.S205*|NF2_ENST00000361676.4_Nonsense_Mutation_p.S246*|NF2_ENST00000413209.2_Intron	NM_000268.3|NM_016418.5|NM_181832.2	NP_000259.1|NP_057502.2|NP_861970.1	P35240	MERL_HUMAN	neurofibromin 2 (merlin)	288	FERM.				actin cytoskeleton organization|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of cell-matrix adhesion|negative regulation of DNA replication|negative regulation of tyrosine phosphorylation of Stat3 protein|negative regulation of tyrosine phosphorylation of Stat5 protein|positive regulation of stress fiber assembly|regulation of hippo signaling cascade|Schwann cell proliferation	cytoskeleton|early endosome|extrinsic to membrane|filopodium membrane|nucleolus|perinuclear region of cytoplasm|ruffle membrane	cytoskeletal protein binding|protein binding	p.?(3)|p.F271_L295del(1)		NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	776						TTTAACTCCTCAAAGCTTCGT	0.353000			"""D, Mis, N, F, S, O"""		"""meningioma, acoustic neuroma, renal """	"""meningioma, acoustic neuroma"""			Neurofibromatosis, type 2				2	9					0	0	0.115264	0	0
GALNT3	2591	broad.mit.edu	37	2	166627124	166627124	+	Missense_Mutation	SNP	G	G	T			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr2:166627124G>T	ENST00000392701.3	-	2	862	c.87C>A	c.(85-87)ttC>ttA	p.F29L		NM_004482.3	NP_004473.2	Q14435	GALT3_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3)	29					protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	Golgi cisterna membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm	calcium ion binding|manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(1)	20						CTATTATAAAGAAAAAAATTA	0.308000													10	22					0.000442599	0.000461334	0.058154	1	0
NOXRED1	122945	broad.mit.edu	37	14	77872373	77872373	+	Missense_Mutation	SNP	C	C	G			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr14:77872373C>G	ENST00000380835.2	-	5	954	c.788G>C	c.(787-789)aGt>aCt	p.S263T		NM_001113475.2	NP_001106946.1	Q6NXP6	CN148_HUMAN	NADP-dependent oxidoreductase domain containing 1	263					proline biosynthetic process		binding|pyrroline-5-carboxylate reductase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	9						AAAGAGTTCACTCAGAAGCTG	0.463000													7	25					0	0	0.038147	0	0
LCT	3938	broad.mit.edu	37	2	136575003	136575003	+	Missense_Mutation	SNP	T	T	C			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr2:136575003T>C	ENST00000264162.2	-	6	1625	c.1615A>G	c.(1615-1617)Acc>Gcc	p.T539A		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	539	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		TCATGGAAGGTCACCCACAGC	0.587000													12	36					0	0	0.080935	0	0
KBTBD12	166348	broad.mit.edu	37	3	127703084	127703084	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr3:127703084C>T	ENST00000405109.1	+	6	2302	c.1835C>T	c.(1834-1836)cCg>cTg	p.P612L	KBTBD12_ENST00000407609.3_Missense_Mutation_p.P219L|KBTBD12_ENST00000492025.1_3'UTR|KBTBD12_ENST00000405256.1_Missense_Mutation_p.P612L|KBTBD12_ENST00000343941.4_Missense_Mutation_p.P187L			Q3ZCT8	KBTBC_HUMAN	kelch repeat and BTB (POZ) domain containing 12	612										endometrium(1)|large_intestine(6)|lung(5)|ovary(1)	13						CTCATCCCCCCGCCTTCAGAT	0.537000													21	32					0	0	0.069288	0	0
CA8	767	broad.mit.edu	37	8	61178601	61178601	+	Silent	SNP	C	C	T			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr8:61178601C>T	ENST00000317995.4	-	3	564	c.300G>A	c.(298-300)tcG>tcA	p.S100S		NM_004056.4	NP_004047.3	P35219	CAH8_HUMAN	carbonic anhydrase VIII	100			S -> P (in CMARQ3; affects protein stability owing to accelerated proteasomal degradation).		one-carbon metabolic process		carbonate dehydratase activity|zinc ion binding			endometrium(2)|large_intestine(5)|lung(6)|prostate(2)|skin(1)	16		all_cancers(86;0.172)|all_epithelial(80;0.0383)|all_lung(136;0.0413)|Lung NSC(129;0.0474)				ATGGTCCTCCCGAAAGAACTG	0.388000													11	30					0	0	0.080935	0	0
HLA-A	3105	broad.mit.edu	37	6	29910607	29910607	+	Silent	SNP	G	G	C	rs72555397		TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr6:29910607G>C	ENST00000396634.1	+	4	488	c.147G>C	c.(145-147)gtG>gtC	p.V49V	HLA-A_ENST00000376806.5_Silent_p.V49V|HLA-A_ENST00000376802.2_Silent_p.V49V|HLA-A_ENST00000376809.5_Silent_p.V49V			P30443	1A01_HUMAN	major histocompatibility complex, class I, A	49	Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity	p.V49V(2)		central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						TCATCGCCGTGGGCTACGTGG	0.692000									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)			4	41					0	0	0.184627	0	0
SNTG2	54221	broad.mit.edu	37	2	1271203	1271203	+	Missense_Mutation	SNP	G	G	C			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr2:1271203G>C	ENST00000308624.5	+	14	1273	c.1144G>C	c.(1144-1146)Gag>Cag	p.E382Q	SNTG2_ENST00000407292.1_Missense_Mutation_p.E255Q	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	382	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)		TTTTGACTTTGAGGACCAGAG	0.522000													9	12					0	0	0.047766	0	0
TLN1	7094	broad.mit.edu	37	9	35724888	35724888	+	Silent	SNP	C	C	T			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr9:35724888C>T	ENST00000314888.9	-	4	650	c.297G>A	c.(295-297)acG>acA	p.T99T	TLN1_ENST00000540444.1_Silent_p.T99T	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	99	FERM.				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CCACCATGATCGTCTTCACAG	0.512000													21	198					0	0	0.219247	0	0
GNAS	2778	broad.mit.edu	37	20	57430002	57430002	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr20:57430002G>A	ENST00000371100.4	+	1	2234	c.1682G>A	c.(1681-1683)cGc>cAc	p.R561H	GNAS_ENST00000313949.7_Intron|GNAS_ENST00000371099.2_Missense_Mutation_p.R561H|GNAS_ENST00000603534.1_Intron|GNAS_ENST00000371098.2_Intron|GNAS_ENST00000306120.3_Missense_Mutation_p.A498T|GNAS_ENST00000371102.4_Missense_Mutation_p.R561H|GNAS_ENST00000371075.3_Intron|GNAS_ENST00000464624.2_3'UTR	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	GNAS complex locus	0					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			AGCCGCGGCCGCCGCGTGTAC	0.687000			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)			5	4					0	0	0.184627	0	0
ZFYVE28	57732	broad.mit.edu	37	4	2307028	2307028	+	Missense_Mutation	SNP	G	G	A	rs145750553		TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr4:2307028G>A	ENST00000290974.2	-	8	1378	c.1039C>T	c.(1039-1041)Cgc>Tgc	p.R347C	ZFYVE28_ENST00000511071.1_Missense_Mutation_p.R317C|RP11-478C1.7_ENST00000510632.1_RNA|ZFYVE28_ENST00000515312.1_Missense_Mutation_p.R277C	NM_020972.2	NP_066023.2	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28	347					negative regulation of epidermal growth factor receptor activity	cytosol|early endosome membrane	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						TGGACCATGCGGCTGAGCTGC	0.657000													9	40					0	0	0.047766	0	0
DMD	1756	broad.mit.edu	37	X	32328384	32328384	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chrX:32328384G>A	ENST00000357033.4	-	42	6138	c.5932C>T	c.(5932-5934)Cgt>Tgt	p.R1978C	DMD_ENST00000378677.2_Missense_Mutation_p.R1974C	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1978					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				GTTTCTTCACGGACAGTGTGC	0.378000													8	5					0	0	0.038147	0	0
FBLN5	10516	broad.mit.edu	37	14	92357591	92357591	+	Missense_Mutation	SNP	A	A	G			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr14:92357591A>G	ENST00000267620.10	-	7	885	c.716T>C	c.(715-717)cTc>cCc	p.L239P	FBLN5_ENST00000556154.1_Missense_Mutation_p.L203P|FBLN5_ENST00000342058.4_Missense_Mutation_p.L198P			Q9UBX5	FBLN5_HUMAN	fibulin 5	198	EGF-like 4; calcium-binding (Potential).				cell-matrix adhesion|elastic fiber assembly|protein localization at cell surface|regulation of removal of superoxide radicals	extracellular space|proteinaceous extracellular matrix|soluble fraction	calcium ion binding|integrin binding|protein C-terminus binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	28		all_cancers(154;0.0722)				ATCCTCATTGAGGGTAAAACC	0.478000													3	45					0	0	0.115264	0	0
PTGR2	145482	broad.mit.edu	37	14	74345930	74345930	+	Silent	SNP	C	C	A			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr14:74345930C>A	ENST00000555661.1	+	6	796	c.651C>A	c.(649-651)ctC>ctA	p.L217L	RP5-1021I20.4_ENST00000553813.1_Silent_p.L83L|PTGR2_ENST00000554885.1_Silent_p.L168L|PTGR2_ENST00000555228.1_Silent_p.L217L|PTGR2_ENST00000267568.4_Silent_p.L217L			Q8N8N7	PTGR2_HUMAN	prostaglandin reductase 2	217					prostaglandin metabolic process		15-oxoprostaglandin 13-oxidase activity|zinc ion binding			NS(1)|large_intestine(3)|lung(2)|prostate(1)|skin(2)	9						CAGAACAGCTCCGTGAATCAT	0.403000													45	112					4.06502e-11	4.55005e-11	0.131918	1	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274415	39274415	+	Silent	SNP	C	C	T	rs425487	by1000genomes	TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr17:39274415C>T	ENST00000391413.2	-	1	191	c.153G>A	c.(151-153)agG>agA	p.R51R		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	51	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		Missing (in allele KAP4.14).			keratin filament		p.R51R(6)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			AGCACTGGGGCCTGCAGCAGC	0.667000													5	50					0	0	0.184627	0	0
POPDC3	64208	broad.mit.edu	37	6	105606599	105606599	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr6:105606599G>A	ENST00000254765.3	-	4	900	c.622C>T	c.(622-624)Cga>Tga	p.R208*	POPDC3_ENST00000474760.1_5'UTR|BVES-AS1_ENST00000580511.1_RNA|BVES-AS1_ENST00000369120.2_RNA|BVES-AS1_ENST00000369122.3_RNA|BVES-AS1_ENST00000580854.1_RNA	NM_022361.4	NP_071756.2	Q9HBV1	POPD3_HUMAN	popeye domain containing 3	208						integral to membrane				NS(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(3)|urinary_tract(1)	26		all_cancers(87;4.87e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0157)|Colorectal(196;0.202)|Lung NSC(302;0.238)				GACACATATCGACAATCAGTT	0.413000													20	103					0	0	0.069288	0	0
FLT1	2321	broad.mit.edu	37	13	29002024	29002024	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr13:29002024C>T	ENST00000282397.4	-	9	1392	c.1141G>A	c.(1141-1143)Gct>Act	p.A381T	FLT1_ENST00000539099.1_Missense_Mutation_p.A381T|FLT1_ENST00000541932.1_Missense_Mutation_p.A381T	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	381	Ig-like C2-type 4.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	AAATAGCGAGCAGATTTCTCA	0.403000													13	54					0	0	0.093190	0	0
PAPLN	89932	broad.mit.edu	37	14	73720589	73720589	+	Missense_Mutation	SNP	G	G	T	rs145657526	byFrequency	TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr14:73720589G>T	ENST00000427855.1	+	12	1324	c.1222G>T	c.(1222-1224)Ggg>Tgg	p.G408W	PAPLN_ENST00000555445.1_Missense_Mutation_p.G408W|PAPLN_ENST00000340738.5_Missense_Mutation_p.G381W|PAPLN_ENST00000554301.1_Missense_Mutation_p.G408W|PAPLN_ENST00000381166.3_Missense_Mutation_p.G408W			O95428	PPN_HUMAN	papilin, proteoglycan-like sulfated glycoprotein	408	TSP type-1 3.					proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		TGAGTGTGCCGGGCTGCCTGG	0.697000													14	39					1.05317e-09	1.16559e-09	0.119110	1	0
VPS13A	23230	broad.mit.edu	37	9	79840885	79840885	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr9:79840885G>A	ENST00000360280.3	+	14	1465	c.1205G>A	c.(1204-1206)aGa>aAa	p.R402K	VPS13A_ENST00000376636.3_Missense_Mutation_p.R402K|VPS13A_ENST00000357409.5_Missense_Mutation_p.R402K|VPS13A_ENST00000376634.4_Missense_Mutation_p.R402K	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	402					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						ACTATAGCTAGACAGACGGCA	0.264000													23	89					0	0	0.083992	0	0
ANO5	203859	broad.mit.edu	37	11	22272376	22272376	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr11:22272376C>T	ENST00000324559.8	+	11	1420	c.1103C>T	c.(1102-1104)aCg>aTg	p.T368M		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	368						chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CTAAATAGTACGTGTTTGGCT	0.368000													39	49					0	0	0.246493	0	0
ZNF638	27332	broad.mit.edu	37	2	71591185	71591185	+	Missense_Mutation	SNP	G	G	T			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr2:71591185G>T	ENST00000409544.1	+	5	2150	c.1520G>T	c.(1519-1521)cGg>cTg	p.R507L	ZNF638_ENST00000355812.3_Missense_Mutation_p.R507L|ZNF638_ENST00000264447.4_Missense_Mutation_p.R507L|ZNF638_ENST00000377802.2_Missense_Mutation_p.R507L|ZNF638_ENST00000410075.1_3'UTR	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	507	Arg-rich.				RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						AGATTCCGTCGGTCTCGAAGC	0.453000													24	45					4.26978e-12	4.80655e-12	0.083992	1	0
PXK	54899	broad.mit.edu	37	3	58395289	58395289	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr3:58395289C>T	ENST00000463280.1	+	13	1331	c.1240C>T	c.(1240-1242)Cag>Tag	p.Q414*	PXK_ENST00000536660.1_Nonsense_Mutation_p.Q310*|PXK_ENST00000383716.3_Nonsense_Mutation_p.Q414*|PXK_ENST00000383715.4_Nonsense_Mutation_p.Q430*|PXK_ENST00000484288.1_Nonsense_Mutation_p.Q447*|PXK_ENST00000479241.1_Nonsense_Mutation_p.Q430*|PXK_ENST00000302779.5_Nonsense_Mutation_p.Q430*|PXK_ENST00000356151.2_Nonsense_Mutation_p.Q447*			Q7Z7A4	PXK_HUMAN	PX domain containing serine/threonine kinase	447	Protein kinase.				cell communication|inflammatory response|negative regulation of ATPase activity|negative regulation of ion transport|regulation of synaptic transmission	centrosome|cytoplasm|nucleus|plasma membrane	actin binding|ATP binding|phosphatidylinositol binding|protein C-terminus binding|protein kinase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(55;0.000249)|KIRC - Kidney renal clear cell carcinoma(10;0.00346)|Kidney(10;0.00368)|OV - Ovarian serous cystadenocarcinoma(275;0.22)		GACAAGAGCTCAGTCCCACCA	0.418000													4	27					0	0	0.150653	0	0
LSR	51599	broad.mit.edu	37	19	35757379	35757379	+	Missense_Mutation	SNP	C	C	A			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr19:35757379C>A	ENST00000602122.1	+	5	1470	c.983C>A	c.(982-984)cCt>cAt	p.P328H	LSR_ENST00000347609.4_Missense_Mutation_p.P310H|LSR_ENST00000361790.3_Missense_Mutation_p.P347H|LSR_ENST00000360798.3_Missense_Mutation_p.P279H|LSR_ENST00000427250.1_Missense_Mutation_p.P191H|LSR_ENST00000354900.3_Missense_Mutation_p.P328H			Q86X29	LSR_HUMAN	lipolysis stimulated lipoprotein receptor	347					embryo development|liver development	chylomicron|integral to membrane|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle	receptor activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			CCCATGGGCCCTGCCTACAAC	0.627000													19	24					2.4624e-09	2.69496e-09	0.204396	1	0
OMA1	115209	broad.mit.edu	37	1	59002204	59002204	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr1:59002204G>T	ENST00000371226.3	-	3	823	c.710C>A	c.(709-711)tCg>tAg	p.S237*	DAB1_ENST00000485760.1_Intron|OMA1_ENST00000358603.2_Nonsense_Mutation_p.S237*|OMA1_ENST00000467063.1_5'UTR	NM_145243.3	NP_660286.1	Q96E52	OMA1_HUMAN	OMA1 zinc metallopeptidase	237					proteolysis	integral to membrane|mitochondrial membrane	metal ion binding|metalloendopeptidase activity			NS(1)|breast(1)|large_intestine(6)|liver(2)|lung(6)|prostate(1)|skin(1)	18	all_cancers(7;6.54e-05)					TTCCAGTTCCGATAAAAGTCT	0.343000													12	30					5.16669e-11	5.75049e-11	0.080935	1	0
PAX7	5081	broad.mit.edu	37	1	19018401	19018401	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr1:19018401G>A	ENST00000420770.2	+	5	823	c.740G>A	c.(739-741)cGc>cAc	p.R247H	PAX7_ENST00000400661.3_Missense_Mutation_p.R245H|PAX7_ENST00000375375.3_Missense_Mutation_p.R247H	NM_001135254.1	NP_001128726.1	P23759	PAX7_HUMAN	paired box 7	247					anti-apoptosis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.R247L(2)	PAX7/FOXO1(197)	breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)	31		Colorectal(325;3.46e-05)|all_lung(284;0.000439)|Renal(390;0.000518)|Lung NSC(340;0.000543)|Breast(348;0.00093)|Ovarian(437;0.00768)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00609)|BRCA - Breast invasive adenocarcinoma(304;4.71e-05)|Kidney(64;0.000279)|KIRC - Kidney renal clear cell carcinoma(64;0.00371)|STAD - Stomach adenocarcinoma(196;0.00658)|READ - Rectum adenocarcinoma(331;0.0576)		ATATACACCCGCGAGGAGCTG	0.607000			T	FOXO1A	alveolar rhabdomyosarcoma								8	16					0	0	0.038147	0	0
FBLN5	10516	broad.mit.edu	37	14	92347671	92347671	+	Silent	SNP	G	G	A			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr14:92347671G>A	ENST00000267620.10	-	10	1246	c.1077C>T	c.(1075-1077)atC>atT	p.I359I	FBLN5_ENST00000556154.1_Silent_p.I323I|FBLN5_ENST00000342058.4_Silent_p.I318I			Q9UBX5	FBLN5_HUMAN	fibulin 5	318					cell-matrix adhesion|elastic fiber assembly|protein localization at cell surface|regulation of removal of superoxide radicals	extracellular space|proteinaceous extracellular matrix|soluble fraction	calcium ion binding|integrin binding|protein C-terminus binding	p.I318M(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	28		all_cancers(154;0.0722)				CCTCACAGCGGATGGGGTCAA	0.527000													11	35					0	0	0.080935	0	0
OR7A17	26333	broad.mit.edu	37	19	14992152	14992152	+	Missense_Mutation	SNP	C	C	G			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr19:14992152C>G	ENST00000327462.2	-	1	112	c.16G>C	c.(16-18)Gac>Cac	p.D6H		NM_030901.1	NP_112163.1	O14581	OR7AH_HUMAN	olfactory receptor, family 7, subfamily A, member 17	6					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12	Ovarian(108;0.203)					ATCCCTGTGTCATTCTCTGGT	0.363000													9	13					0	0	0.047766	0	0
SLC16A13	201232	broad.mit.edu	37	17	6942181	6942181	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr17:6942181G>A	ENST00000308027.6	+	3	1362	c.1054G>A	c.(1054-1056)Ggg>Agg	p.G352R		NM_201566.2	NP_963860.1	Q7RTY0	MOT13_HUMAN	solute carrier family 16, member 13	352						integral to membrane|plasma membrane	symporter activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						AGAGAGCATCGGGGGGCTGCT	0.572000													29	97					0	0	0.153744	0	0
CNGA3	1261	broad.mit.edu	37	2	99013652	99013652	+	Silent	SNP	G	G	T			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr2:99013652G>T	ENST00000393504.1	+	8	2436	c.2019G>T	c.(2017-2019)ggG>ggT	p.G673G	CNGA3_ENST00000436404.2_Silent_p.G655G|CNGA3_ENST00000272602.2_Silent_p.G673G|CNGA3_ENST00000409937.1_Silent_p.G677G	NM_001298.2	NP_001289.1	Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	673					signal transduction|visual perception	integral to membrane	cGMP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						AGGGTGGTGGGGACAAGCCCC	0.557000													9	42					1.58986e-06	1.70219e-06	0.069234	1	0
CADM4	199731	broad.mit.edu	37	19	44131798	44131798	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr19:44131798C>T	ENST00000222374.2	-	2	257	c.209G>A	c.(208-210)cGt>cAt	p.R70H		NM_145296.1	NP_660339.1	Q8NFZ8	CADM4_HUMAN	cell adhesion molecule 4	70	Ig-like V-type.				cell adhesion	integral to membrane				endometrium(2)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	12		Prostate(69;0.0199)				GCACTCACCACGGGTGCCATT	0.582000													21	68					0	0	0.219247	0	0
SLC15A1	6564	broad.mit.edu	37	13	99378417	99378417	+	Missense_Mutation	SNP	G	G	C	rs140055365		TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr13:99378417G>C	ENST00000376503.5	-	4	260	c.205C>G	c.(205-207)Ctc>Gtc	p.L69V		NM_005073.3	NP_005064.1	P46059	S15A1_HUMAN	solute carrier family 15 (oligopeptide transporter), member 1	69					digestion|protein transport	integral to plasma membrane|membrane fraction	peptide:hydrogen symporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000)	AGAGCTCCGAGAATTGGCGTC	0.453000													12	32					0	0	0.093190	0	0
FNBP4	23360	broad.mit.edu	37	11	47772824	47772824	+	Missense_Mutation	SNP	T	T	C			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr11:47772824T>C	ENST00000263773.5	-	5	668	c.656A>G	c.(655-657)gAt>gGt	p.D219G	FNBP4_ENST00000534003.1_5'UTR	NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	219	WW 1.									NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						TTCCTGCCAATCGCCCATCTC	0.393000													4	123					0	0	0.184627	0	0
RDH8	50700	broad.mit.edu	37	19	10124179	10124179	+	Silent	SNP	C	C	T			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr19:10124179C>T	ENST00000591589.1	+	1	255	c.66C>T	c.(64-66)gcC>gcT	p.A22A	RDH8_ENST00000171214.1_Silent_p.A2A			Q9NYR8	RDH8_HUMAN	retinol dehydrogenase 8 (all-trans)	2					estrogen biosynthetic process|response to stimulus|visual perception	cytoplasm|integral to plasma membrane	binding|estradiol 17-beta-dehydrogenase activity|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity			endometrium(3)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|prostate(1)	21			Epithelial(33;4.24e-05)		Vitamin A(DB00162)	TCAACATGGCCGCTGCACCCC	0.607000													14	28					0	0	0.119110	0	0
ADCY3	109	broad.mit.edu	37	2	25054533	25054533	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr2:25054533G>A	ENST00000260600.5	-	11	2904	c.2053C>T	c.(2053-2055)Cgg>Tgg	p.R685W	ADCY3_ENST00000450524.1_5'UTR|ADCY3_ENST00000405392.1_Missense_Mutation_p.R318W	NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	685					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					CCTCTTACCCGGGGAAAGATG	0.498000													5	24					0	0	0.184627	0	0
FLNB	2317	broad.mit.edu	37	3	58145386	58145386	+	Missense_Mutation	SNP	G	G	A	rs139262140		TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr3:58145386G>A	ENST00000295956.4	+	42	7159	c.6994G>A	c.(6994-6996)Gag>Aag	p.E2332K	FLNB_ENST00000493452.1_Missense_Mutation_p.E2139K|FLNB_ENST00000429972.2_Missense_Mutation_p.E2321K|FLNB_ENST00000419752.2_Missense_Mutation_p.E2152K|FLNB_ENST00000358537.3_Missense_Mutation_p.E2308K|FLNB_ENST00000348383.5_Missense_Mutation_p.E2291K|FLNB_ENST00000490882.1_Missense_Mutation_p.E2363K|FLNB_ENST00000357272.4_3'UTR	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	2332	Interaction with INPPL1.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		AGCCGTGGAGGAGTGCCACGT	0.552000													4	31					0	0	0.150653	0	0
FBXO27	126433	broad.mit.edu	37	19	39521762	39521762	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr19:39521762C>T	ENST00000292853.4	-	4	598	c.479G>A	c.(478-480)tGg>tAg	p.W160*	FBXO27_ENST00000600828.1_Nonsense_Mutation_p.W159*|FBXO27_ENST00000509137.2_Nonsense_Mutation_p.W160*|CTB-189B5.3_ENST00000597303.1_RNA	NM_178820.3	NP_849142.1	Q8NI29	FBX27_HUMAN	F-box protein 27	160	FBA.				protein catabolic process	SCF ubiquitin ligase complex	glycoprotein binding			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|urinary_tract(2)	17	all_cancers(60;3.79e-07)|all_lung(34;1.26e-07)|Lung NSC(34;1.46e-07)|all_epithelial(25;4.69e-07)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			CTTGCAACACCAGCTGGGAAT	0.537000													28	41					0	0	0.108266	0	0
DNAH8	1769	broad.mit.edu	37	6	38825334	38825334	+	Nonsense_Mutation	SNP	C	C	G			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr6:38825334C>G	ENST00000359357.3	+	40	5377	c.5123C>G	c.(5122-5124)tCa>tGa	p.S1708*	DNAH8_ENST00000441566.1_Nonsense_Mutation_p.S1708*|DNAH8_ENST00000449981.2_Nonsense_Mutation_p.S1925*					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						ACACACGATTCAGAAGAGGCT	0.348000													14	41					0	0	0.146539	0	0
CT47B1	643311	broad.mit.edu	37	X	120008979	120008979	+	Silent	SNP	T	T	C	rs871733	by1000genomes	TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chrX:120008979T>C	ENST00000371311.3	-	1	800	c.546A>G	c.(544-546)ccA>ccG	p.P182P		NM_001145718.1	NP_001139190.1	P0C2W7	CT47B_HUMAN	cancer/testis antigen family 47, member B1	182										breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						CCTCGCCTTCTGGGGCTGCAG	0.711000													3	26					0	0	0.115264	0	0
FAM71A	149647	broad.mit.edu	37	1	212798505	212798505	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr1:212798505G>A	ENST00000294829.3	+	1	717	c.286G>A	c.(286-288)Gaa>Aaa	p.E96K	RP11-338C15.5_ENST00000427949.1_RNA	NM_153606.3	NP_705834.2	Q8IYT1	FA71A_HUMAN	family with sequence similarity 71, member A	96								p.E96K(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)		CACCGGCTGCGAAGAGTATGC	0.572000													5	46					0	0	0.217242	0	0
USH1G	124590	broad.mit.edu	37	17	72915896	72915896	+	Silent	SNP	C	C	G			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr17:72915896C>G	ENST00000319642.1	-	2	1217	c.1035G>C	c.(1033-1035)cgG>cgC	p.R345R		NM_173477.2	NP_775748.2	Q495M9	USH1G_HUMAN	Usher syndrome 1G (autosomal recessive)	345					equilibrioception|photoreceptor cell maintenance|sensory perception of sound	actin cytoskeleton			HN1/USH1G(2)	endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(3)	14	all_lung(278;0.172)|Lung NSC(278;0.207)					AGCTCTGCAGCCGACCCCGCG	0.667000													13	65					0	0	0.119110	0	0
EGFR	1956	broad.mit.edu	37	7	55233012	55233012	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr7:55233012G>A	ENST00000275493.2	+	15	1939	c.1762G>A	c.(1762-1764)Ggc>Agc	p.G588S	EGFR_ENST00000344576.2_Missense_Mutation_p.G588S|EGFR_ENST00000442591.1_Missense_Mutation_p.G588S|EGFR_ENST00000455089.1_Missense_Mutation_p.G543S|EGFR_ENST00000454757.2_Missense_Mutation_p.G535S|EGFR_ENST00000342916.3_Missense_Mutation_p.G588S	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	588					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	CTACATTGACGGCCCCCACTG	0.532000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			23	43					0	0	0.108266	0	0
CCDC114	93233	broad.mit.edu	37	19	48806034	48806034	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr19:48806034C>T	ENST00000315396.7	-	10	1728	c.1046G>A	c.(1045-1047)cGc>cAc	p.R349H		NM_144577.3	NP_653178.3	Q96M63	CC114_HUMAN	coiled-coil domain containing 114	349										cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)	24		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)		CTTGTCCATGCGCTGCTGCAA	0.632000													29	61					0	0	0.153744	0	0
ITGA9	3680	broad.mit.edu	37	3	37523001	37523001	+	Silent	SNP	C	C	T			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr3:37523001C>T	ENST00000264741.5	+	4	703	c.447C>T	c.(445-447)atC>atT	p.I149I	ITGA9_ENST00000422441.1_Silent_p.I149I	NM_002207.2	NP_002198.2	Q13797	ITA9_HUMAN	integrin, alpha 9	149					axon guidance|cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1)	44				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		GGAAGAACATCTACTATGAAG	0.532000													11	70					0	0	0.080935	0	0
SLC9A1	6548	broad.mit.edu	37	1	27436232	27436232	+	Frame_Shift_Del	DEL	C	C	-			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr1:27436232delC	ENST00000263980.3	-	3	1425	c.850delG	c.(850-852)aafs	p.E284fs	SLC9A1_ENST00000374086.3_Frame_Shift_Del_p.E284fs|SLC9A1_ENST00000545949.1_5'UTR	NM_003047.4	NP_003038.2	P19634	SL9A1_HUMAN	solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1	284					regulation of pH	integral to membrane	sodium:hydrogen antiporter activity			central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046)	Amiloride(DB00594)	CCCACGTGTTCGTAGTTGGCA	0.642													30	57	---	---	---	---					
TNXB	7148	broad.mit.edu	37	6	32049423	32049424	+	Frame_Shift_Ins	INS	-	-	G	rs12211410	by1000genomes	TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr6:32049423_32049424insG	ENST00000375244.3	-	10	3964_3965	c.3763_3764insC	c.(3763-3765)cccfs	p.P1255fs	TNXB_ENST00000375247.2_Frame_Shift_Ins_p.P1255fs			P22105	TENX_HUMAN	tenascin XB	1342	Fibronectin type-III 5.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GAACTCAGGGCGGGGGGGCTCC	0.639													2	4	---	---	---	---					
HLA-DRB6	3128	broad.mit.edu	37	6	32522327	32522328	+	RNA	INS	-	-	CCCAGTAG	rs144707340	by1000genomes	TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr6:32522327_32522328insCCCAGTAG	ENST00000411500.1	-	0	740					NR_001298.1																						ACAGGGCTACCCCCAGTGACCT	0.510													3	4	---	---	---	---					
CAMSAP1	157922	broad.mit.edu	37	9	138715799	138715800	+	Frame_Shift_Ins	INS	-	-	T	rs148250832	byFrequency	TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr9:138715799_138715800insT	ENST00000389532.4	-	10	1460_1461	c.1396_1397insA	c.(1396-1398)cagfs	p.Q466fs	CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000409386.3_Frame_Shift_Ins_p.Q477fs|CAMSAP1_ENST00000312405.6_Frame_Shift_Ins_p.Q188fs	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	466						cytoplasm|microtubule				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		GACTCACCTGGTTTTTTTTTCT	0.460													4	6	---	---	---	---					
KMT2D	8085	broad.mit.edu	37	12	49427266	49427268	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr12:49427266_49427268delTGC	ENST00000301067.7	-	39	11219_11221	c.11220_11222delGCA	c.(11218-11223)caa>ca	p.QQ3744del		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D									p.Q3471*(1)									ctgctgctgttgctgctgctgct	0.581													8	16	---	---	---	---					
KRT14	3861	broad.mit.edu	37	17	39740519	39740521	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-IQ-7630-01A-11D-2078-08	TCGA-IQ-7630-10A-01D-2078-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80442509-c2f0-4047-956e-a3633dfd472b	fff52fee-b4e5-4e06-976f-894ca57c3a9e	g.chr17:39740519_39740521delTTC	ENST00000167586.6	-	3	839_841	c.753_755delGAA	c.(751-756)aac>aa	p.KN251del		NM_000526.4	NP_000517.2	P02533	K1C14_HUMAN	keratin 14	251	Coil 1B.|Rod.				epidermis development|hemidesmosome assembly|intermediate filament bundle assembly	cytosol|keratin filament|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1)	25		Breast(137;0.000307)				CTCCTCGTGGTTCTTCTTCAGGT	0.557													26	100	---	---	---	---