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
FLG	2312	broad.mit.edu	37	1	152276467	152276468	+	In_Frame_Ins	INS	-	-	GGA			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr1:152276467_152276468insGGA	uc001ezu.1	-	2	10930_10931	c.10894_10895insTCC	c.(10894-10896)cag>cTCCag	p.3631_3632insL		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	3631	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTCTGCTGACTGCTGGTGGTGG	0.554									Ichthyosis			
TDRD10	126668	broad.mit.edu	37	1	154516937	154516937	+	Silent	SNP	C	C	T	rs151222618	byFrequency	TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr1:154516937C>T	uc009wow.3	+	9	1579	c.741C>T	c.(739-741)cgC>cgT	p.R247R	TDRD10_uc001ffd.3_Silent_p.R247R|TDRD10_uc001ffe.3_Silent_p.R168R	NM_001098475	NP_001091945	Q5VZ19	TDR10_HUMAN	Homo sapiens tudor domain containing 10 (TDRD10), transcript variant 1, mRNA.	247	Tudor.						nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			CCGTTATGCGCGGGACTCGCT	0.632												
LY9	4063	broad.mit.edu	37	1	160784327	160784327	+	Missense_Mutation	SNP	T	T	G			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr1:160784327T>G	uc001fwu.3	+	3	898	c.848T>G	c.(847-849)tTg>tGg	p.L283W	LY9_uc010pjs.1_Missense_Mutation_p.L283W|LY9_uc001fwv.3_Missense_Mutation_p.L283W|LY9_uc001fww.3_Missense_Mutation_p.L283W|LY9_uc001fwy.1_Missense_Mutation_p.L185W|LY9_uc001fwz.3_5'UTR	NM_002348	NP_002339	Q9HBG7	LY9_HUMAN	Homo sapiens lymphocyte antigen 9 (LY9), transcript variant 1, mRNA.	283	Ig-like V-type 2.				cell adhesion|immunoglobulin mediated immune response	integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			GTTGTCTGGTTGTTTAACACA	0.547												
CR2	1380	broad.mit.edu	37	1	207647215	207647215	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr1:207647215C>T	uc001hfw.3	+	10	2167	c.2048C>T	c.(2047-2049)aCg>aTg	p.T683M	CR2_uc001hfv.3_Missense_Mutation_p.T742M|CR2_uc009xch.3_Missense_Mutation_p.T683M	NM_001877	NP_001868	P20023	CR2_HUMAN	Homo sapiens complement component (3d/Epstein Barr virus) receptor 2 (CR2), transcript variant 2, mRNA.	683	Sushi 11.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						CTAGTTAATACGTCCTGCCAA	0.438												
ACBD3	64746	broad.mit.edu	37	1	226347010	226347010	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr1:226347010G>C	uc001hpy.3	-	4	825	c.778C>G	c.(778-780)Cag>Gag	p.Q260E		NM_022735	NP_073572	Q9H3P7	GCP60_HUMAN	Homo sapiens acyl-CoA binding domain containing 3 (ACBD3), mRNA.	260	Gln-rich.				steroid biosynthetic process|transport	Golgi membrane|integral to membrane|mitochondrion	fatty-acyl-CoA binding|protein binding			breast(2)|endometrium(3)|large_intestine(5)|lung(7)|skin(1)|urinary_tract(2)	20	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.121)		GCTGCATACTGCTGGAACTGC	0.448												
NUP133	55746	broad.mit.edu	37	1	229577744	229577744	+	Silent	SNP	T	T	C			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr1:229577744T>C	uc001htn.3	-	25	3470	c.3378A>G	c.(3376-3378)ctA>ctG	p.L1126L		NM_018230	NP_060700	Q8WUM0	NU133_HUMAN	Homo sapiens nucleoporin 133kDa (NUP133), mRNA.	1126					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				GATCCGCTTGTAGCAGGTCTT	0.343												
OR13G1	441933	broad.mit.edu	37	1	247836129	247836129	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr1:247836129G>T	uc001idi.1	-	0	215	c.215C>A	c.(214-216)aCa>aAa	p.T72K		NM_001005487	NP_001005487	Q8NGZ3	O13G1_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily G, member 1 (OR13G1), mRNA.	72					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TATGATGCTTGTTGTGCAGAT	0.443												
OR2L8	391190	broad.mit.edu	37	1	248112665	248112665	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr1:248112665G>A	uc001idt.1	+	0	506	c.506G>A	c.(505-507)cGa>cAa	p.R169Q	OR2L13_uc001ids.3_Intron	NM_001001963	NP_001001963	Q8NGY9	OR2L8_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily L, member 8 (OR2L8), mRNA.	169					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			CCTTATTGCCGATCCAGGGCC	0.478												
ANXA8L1	653145	broad.mit.edu	37	10	47158869	47158869	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr10:47158869C>T	uc010qfr.2	-	11	1270	c.1264G>A	c.(1264-1266)Gcc>Acc	p.A422T	ANXA8L1_uc001jed.4_Intron|ANXA8L1_uc001jeh.3_Missense_Mutation_p.A318T|ANXA8L1_uc010qfs.2_Missense_Mutation_p.A322T|ANXA8L1_uc010qft.2_Non-coding_Transcript|ANXA8L1_uc010qfu.1_Missense_Mutation_p.A139T	NM_001098845	NP_001092315	Q5T2P8	AXA81_HUMAN	Homo sapiens annexin A8-like 1 (ANXA8L1), mRNA.	318							calcium ion binding|calcium-dependent phospholipid binding			large_intestine(1)|lung(1)	2						CTCAGCAGGGCGTTCTTGTAG	0.597												
ANO5	203859	broad.mit.edu	37	11	22291884	22291884	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr11:22291884G>A	uc001mqi.2	+	17	2242	c.1925G>A	c.(1924-1926)cGa>cAa	p.R642Q	ANO5_uc001mqj.2_Missense_Mutation_p.R641Q	NM_213599	NP_998764	Q75V66	ANO5_HUMAN	Homo sapiens anoctamin 5 (ANO5), transcript variant 1, mRNA.	642						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						TGGAGACGCCGAAAAGCTCGG	0.413												
DCDC5	100506627	broad.mit.edu	37	11	30953328	30953328	+	Missense_Mutation	SNP	G	G	A	rs150997514	byFrequency	TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr11:30953328G>A	uc009yjk.1	-	9	1300	c.1231C>T	c.(1231-1233)Cgg>Tgg	p.R411W	DCDC5_uc021qfk.1_Missense_Mutation_p.R70W|DCDC5_uc009yjl.1_3'UTR	NM_020869	NP_065920	Q6ZRR9	DCDC5_HUMAN	Homo sapiens doublecortin domain containing 5 (DCDC5), mRNA.	42					intracellular signal transduction			p.R42W(2)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(17)|prostate(1)|stomach(1)	31						TGCGTTTTCCGTCCAGGTGAG	0.378												
GDPD4	220032	broad.mit.edu	37	11	76956338	76956338	+	Silent	SNP	G	G	A			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr11:76956338G>A	uc001oyf.3	-	10	1325	c.1074C>T	c.(1072-1074)atC>atT	p.I358I		NM_182833	NP_878253	Q6W3E5	GDPD4_HUMAN	Homo sapiens glycerophosphodiester phosphodiesterase domain containing 4 (GDPD4), mRNA.	358	GDPD.				glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	20						GATGTTGCTCGATTTTAGAGG	0.438												
GRM5	2915	broad.mit.edu	37	11	88338071	88338071	+	Silent	SNP	G	G	A			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr11:88338071G>A	uc001pcq.3	-	3	1409	c.1209C>T	c.(1207-1209)gcC>gcT	p.A403A	GRM5_uc009yvm.3_Silent_p.A403A	NM_001143831	NP_001137303	P41594	GRM5_HUMAN	Homo sapiens glutamate receptor, metabotropic 5 (GRM5), transcript variant a, mRNA.	403					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	TCGAATAGATGGCGTTGATCA	0.458												
NAALAD2	10003	broad.mit.edu	37	11	89902152	89902152	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr11:89902152C>G	uc001pdf.4	+	11	1443	c.1334C>G	c.(1333-1335)tCt>tGt	p.S445C	NAALAD2_uc009yvx.3_Missense_Mutation_p.S412C|NAALAD2_uc009yvy.3_Intron	NM_005467	NP_005458	Q9Y3Q0	NALD2_HUMAN	Homo sapiens N-acetylated alpha-linked acidic dipeptidase 2 (NAALAD2), mRNA.	445	NAALADase.				proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				TCGGATTCATCTATAGAAGGT	0.294												
APOF	319	broad.mit.edu	37	12	56755752	56755752	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr12:56755752C>G	uc001sle.1	-	1	292	c.238G>C	c.(238-240)Gcc>Ccc	p.A80P		NM_001638	NP_001629	Q13790	APOF_HUMAN	Homo sapiens apolipoprotein F (APOF), mRNA.	80					cholesterol metabolic process	high-density lipoprotein particle|low-density lipoprotein particle	cholesterol binding|lipid transporter activity|receptor binding			breast(1)|lung(3)|prostate(1)|stomach(1)	6						GGTAGAGGGGCCATGTGGCTG	0.547												
R3HDM2	22864	broad.mit.edu	37	12	57674205	57674207	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr12:57674205_57674207delTGC	uc009zpm.1	-	11	1271_1273	c.1236_1238delGCA	c.(1234-1239)cagcaa>caa	p.412_413QQ>Q	R3HDM2_uc010srn.1_Non-coding_Transcript|R3HDM2_uc001snu.2_In_Frame_Del_p.73_74QQ>Q|R3HDM2_uc001snr.2_In_Frame_Del_p.139_140QQ>Q|R3HDM2_uc001sns.2_In_Frame_Del_p.412_413QQ>Q|R3HDM2_uc001snt.2_In_Frame_Del_p.426_427QQ>Q	NM_014925	NP_055740	Q9Y2K5	R3HD2_HUMAN	Homo sapiens R3H domain containing 2 (R3HDM2), mRNA.	412	Gln-rich.					nucleus	nucleic acid binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	22						AGCAGGAAGTtgctgctgctgct	0.576												
MDM1	56890	broad.mit.edu	37	12	68716856	68716856	+	Silent	SNP	C	C	T			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr12:68716856C>T	uc001stz.2	-	4	934	c.798G>A	c.(796-798)agG>agA	p.R266R	MDM1_uc009zqv.1_5'UTR|MDM1_uc010stc.1_Silent_p.R221R	NM_017440	NP_059136	Q8TC05	MDM1_HUMAN	Homo sapiens Mdm1 nuclear protein homolog (mouse) (MDM1), transcript variant 1, mRNA.	266						nucleus		p.R266G(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(7)	33			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000174)		TGAATACCTTCCTTTCAGGAG	0.328												
RALGAPA1	253959	broad.mit.edu	37	14	36211763	36211763	+	Silent	SNP	T	T	C			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr14:36211763T>C	uc001wtj.3	-	10	1651	c.1260A>G	c.(1258-1260)ttA>ttG	p.L420L	RALGAPA1_uc001wti.3_Silent_p.L420L|RALGAPA1_uc010tpv.2_Silent_p.L420L|RALGAPA1_uc010tpw.1_Silent_p.L420L|RALGAPA1_uc001wtk.1_Silent_p.L271L	NM_194301	NP_919277	Q6GYQ0	RGPA1_HUMAN	Homo sapiens Ral GTPase activating protein, alpha subunit 1 (catalytic) (RALGAPA1), transcript variant 2, mRNA.	420					activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						AAATTGGTAATAAAAATGCCT	0.353												
RFX7	64864	broad.mit.edu	37	15	56435018	56435018	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr15:56435018G>A	uc010bfn.3	-	3	359	c.359C>T	c.(358-360)cCg>cTg	p.P120L		NM_022841	NP_073752	Q2KHR2	RFX7_HUMAN	Homo sapiens regulatory factor X, 7 (RFX7), mRNA.	23					regulation of transcription, DNA-dependent	nucleus	DNA binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						TGAAGTCTCCGGATGTTCCTC	0.388												
WDR90	197335	broad.mit.edu	37	16	703568	703568	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr16:703568C>T	uc002cii.1	+	11	1331	c.1277C>T	c.(1276-1278)tCg>tTg	p.S426L	WDR90_uc002cig.1_Missense_Mutation_p.S426L|WDR90_uc002cih.1_Missense_Mutation_p.S427L|WDR90_uc002cij.1_Non-coding_Transcript|WDR90_uc002cik.1_5'Flank	NM_145294	NP_660337	Q96KV7	WDR90_HUMAN	Homo sapiens WD repeat domain 90 (WDR90), mRNA.	426										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				CTATTGGCCTCGGCCCAGGCA	0.657												
CORO7-PAM16	79585	broad.mit.edu	37	16	4391505	4391505	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr16:4391505G>C	uc002cwf.3	-	29	3301	c.2858_splice	c.e29-1	p.A953_splice	CORO7-PAM16_uc002cwe.3_Non-coding_Transcript|CORO7-PAM16_uc002cwd.3_Splice_Site_p.A30_splice	NM_001201479	NP_001188408			Homo sapiens CORO7-PAM16 readthrough (CORO7-PAM16), mRNA.																		GGCCCGGCTGGCTGTGTGGAC	0.657												
SLC25A11	8402	broad.mit.edu	37	17	4842250	4842250	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr17:4842250C>T	uc002fzo.2	-	2	526	c.269G>A	c.(268-270)cGt>cAt	p.R90H	SLC25A11_uc002fzp.2_Missense_Mutation_p.R86H|SLC25A11_uc021tod.1_Missense_Mutation_p.R79H|SLC25A11_uc021toe.1_Missense_Mutation_p.R39H|RNF167_uc002fzs.3_5'Flank|RNF167_uc002fzw.2_5'Flank|RNF167_uc002fzu.3_5'Flank	NM_003562	NP_003553	Q02978	M2OM_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier; oxoglutarate carrier), member 11 (SLC25A11), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	90					gluconeogenesis	integral to plasma membrane|mitochondrial inner membrane	oxoglutarate:malate antiporter activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)	10						GGTGGCCTGACGCAGCAGGCC	0.612												
TMEM102	284114	broad.mit.edu	37	17	7340213	7340213	+	Silent	SNP	T	T	A			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr17:7340213T>A	uc002ggx.1	+	2	1188	c.915T>A	c.(913-915)gcT>gcA	p.A305A	SPEM1_uc010vtw.1_Intron|TMEM102_uc002ggy.2_Silent_p.A305A|FGF11_uc010cmh.1_5'Flank|FGF11_uc010cmi.3_5'Flank|FGF11_uc002ggz.3_5'Flank	NM_178518	NP_848613	Q8N9M5	TM102_HUMAN	Homo sapiens transmembrane protein 102 (TMEM102), mRNA.	305					regulation of apoptosis|response to cytokine stimulus|signal transduction	cell surface|integral to membrane|intracellular	protein binding			kidney(1)|lung(3)|skin(1)	5		Prostate(122;0.173)				TCCTCCTGGCTACCCCTGAGC	0.721												
KRBA2	124751	broad.mit.edu	37	17	8274702	8274702	+	Missense_Mutation	SNP	T	T	G			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr17:8274702T>G	uc002glf.1	-	0	157	c.151A>C	c.(151-153)Aat>Cat	p.N51H	KRBA2_uc002glg.1_Intron	NM_213597	NP_998762	Q6ZNG9	KRBA2_HUMAN	Homo sapiens KRAB-A domain containing 2 (KRBA2), mRNA.	51	KRAB.				DNA integration|regulation of transcription, DNA-dependent	intracellular	DNA binding	p.N51K(1)		endometrium(2)|kidney(2)|large_intestine(7)|lung(5)|stomach(1)|urinary_tract(1)	18						TCTAAATAATTCCAATCTTTG	0.453												
UNC45B	146862	broad.mit.edu	37	17	33497185	33497185	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr17:33497185G>A	uc002hja.3	+	11	1697	c.1600G>A	c.(1600-1602)Ggc>Agc	p.G534S	UNC45B_uc002hjb.3_Missense_Mutation_p.G534S|UNC45B_uc002hjc.3_Missense_Mutation_p.G534S|UNC45B_uc010cto.3_Intron	NM_173167	NP_775259	Q8IWX7	UN45B_HUMAN	Homo sapiens unc-45 homolog B (C. elegans) (UNC45B), transcript variant 1, mRNA.	534					cell differentiation|muscle organ development	cytosol	binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				GGCAGTGGAGGGCCTGGCCTA	0.627												
TMC6	11322	broad.mit.edu	37	17	76120076	76120076	+	Missense_Mutation	SNP	A	A	C			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr17:76120076A>C	uc002juj.1	-	7	1202	c.1076T>G	c.(1075-1077)gTg>gGg	p.V359G	TMC6_uc002jui.1_5'Flank|TMC6_uc010dhf.1_Missense_Mutation_p.V192G|TMC6_uc002juk.2_Missense_Mutation_p.V359G|TMC6_uc010dhg.1_Missense_Mutation_p.V359G|TMC6_uc002jul.1_Missense_Mutation_p.V359G|TMC6_uc002jum.4_Missense_Mutation_p.V150G|TMC6_uc002jun.4_Missense_Mutation_p.V359G|TMC6_uc002juo.2_Missense_Mutation_p.V132G	NM_007267	NP_009198	Q7Z403	TMC6_HUMAN	Homo sapiens transmembrane channel-like 6 (TMC6), transcript variant 2, mRNA.	359						endoplasmic reticulum membrane|integral to membrane				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	14			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			TTACCTGTACACCAGGGTGAT	0.552												
CANT1	124583	broad.mit.edu	37	17	76989644	76989644	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr17:76989644G>C	uc002jwj.3	-	3	1689	c.1194C>G	c.(1192-1194)atC>atG	p.I398M	CANT1_uc002jwn.3_Missense_Mutation_p.I398M|CANT1_uc002jwk.3_Missense_Mutation_p.I398M|CANT1_uc002jwl.2_Intron	NM_138793	NP_620148	Q8WVQ1	CANT1_HUMAN	Homo sapiens calcium activated nucleotidase 1 (CANT1), transcript variant 1, mRNA.	398					positive regulation of I-kappaB kinase/NF-kappaB cascade	endoplasmic reticulum membrane|Golgi cisterna membrane|integral to membrane	calcium ion binding|nucleoside-diphosphatase activity|signal transducer activity		CANT1/ETV4(3)	cervix(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			AAATGAACTCGATGCCTTCGT	0.478			T	ETV4	prostate						OREG0024788	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
RPTOR	57521	broad.mit.edu	37	17	78797000	78797000	+	Silent	SNP	G	G	A			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr17:78797000G>A	uc002jyt.1	+	8	1918	c.1113G>A	c.(1111-1113)ccG>ccA	p.P371P	RPTOR_uc002jys.3_Silent_p.P371P|RPTOR_uc010wuf.1_Silent_p.P186P|RPTOR_uc010wug.1_Silent_p.P371P	NM_020761	NP_065812	Q8N122	RPTOR_HUMAN	Homo sapiens regulatory associated protein of MTOR, complex 1 (RPTOR), transcript variant 1, mRNA.	371					cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						CGCGTCTGCCGCCCACGTACA	0.562												
TMX3	54495	broad.mit.edu	37	18	66377374	66377374	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr18:66377374G>A	uc002lkf.3	-	3	284	c.149C>T	c.(148-150)gCg>gTg	p.A50V	TMX3_uc010xez.2_5'UTR|TMX3_uc010xfa.1_Missense_Mutation_p.A50V|TMX3_uc002lkg.4_Missense_Mutation_p.A50V	NM_019022	NP_061895	Q96JJ7	TMX3_HUMAN	Homo sapiens thioredoxin-related transmembrane protein 3 (TMX3), mRNA.	50	Thioredoxin.				cell redox homeostasis|glycerol ether metabolic process	endoplasmic reticulum membrane|integral to membrane	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	17						ACACCATGGCGCATAAAACTT	0.323												
RTTN	25914	broad.mit.edu	37	18	67718690	67718690	+	Silent	SNP	C	C	T			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr18:67718690C>T	uc002lkp.2	-	38	5348	c.5280G>A	c.(5278-5280)ccG>ccA	p.P1760P	RTTN_uc002lko.2_Non-coding_Transcript|RTTN_uc010xfb.1_Silent_p.P848P|RTTN_uc010dqp.2_Silent_p.P12P	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN	Homo sapiens rotatin (RTTN), mRNA.	1760							binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				CGGTAACAAACGGGAGTGTGA	0.428												
ODF3L2	284451	broad.mit.edu	37	19	463966	463966	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr19:463966C>T	uc002lor.3	-	3	984	c.748G>A	c.(748-750)Gtg>Atg	p.V250M	SHC2_uc002loq.4_5'Flank|ODF3L2_uc010drp.3_Missense_Mutation_p.V214M	NM_182577	NP_872383	Q3SX64	OD3L2_HUMAN	Homo sapiens outer dense fiber of sperm tails 3-like 2 (ODF3L2), mRNA.	250										large_intestine(1)|lung(2)	3						GCTTTGTTCACGGTGACCTGC	0.731												
PIAS4	51588	broad.mit.edu	37	19	4012940	4012940	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr19:4012940G>A	uc002lzg.3	+	1	57	c.47G>A	c.(46-48)cGa>cAa	p.R16Q		NM_015897	NP_056981	Q8N2W9	PIAS4_HUMAN	Homo sapiens protein inhibitor of activated STAT, 4 (PIAS4), mRNA.	16	SAP.				positive regulation of protein sumoylation|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|PML body	DNA binding|SUMO ligase activity|ubiquitin protein ligase binding|zinc ion binding	p.R16L(2)		central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(3)	17				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		ATGAGTTTTCGAGTCTCCGAC	0.597												
ICAM4	3386	broad.mit.edu	37	19	10398368	10398368	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr19:10398368C>G	uc002mnr.2	+	1	520	c.474C>G	c.(472-474)caC>caG	p.H158Q	ICAM4_uc002mns.2_Missense_Mutation_p.T184S|ICAM4_uc002mnt.2_Missense_Mutation_p.T184S|ICAM5_uc002mnu.4_5'Flank	NM_001039132	NP_001034221	Q14773	ICAM4_HUMAN	Homo sapiens intercellular adhesion molecule 4 (Landsteiner-Wiener blood group) (ICAM4), transcript variant 3, mRNA.	0	Ig-like C2-type 2.				cell-cell adhesion|regulation of immune response	extracellular region|integral to membrane|plasma membrane	integrin binding			breast(1)|large_intestine(3)|lung(2)|pancreas(1)	7			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			GAGCGCTTCACCGGCCTGGAT	0.627												
RGL3	57139	broad.mit.edu	37	19	11526629	11526629	+	Silent	SNP	C	C	T			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr19:11526629C>T	uc002mro.2	-	4	685	c.621G>A	c.(619-621)ccG>ccA	p.P207P	RGL3_uc002mrn.2_5'UTR|RGL3_uc002mrm.2_5'UTR|RGL3_uc002mrp.2_Silent_p.P207P	NM_001161616	NP_001155088	Q3MIN7	RGL3_HUMAN	Homo sapiens ral guanine nucleotide dissociation stimulator-like 3 (RGL3), transcript variant 1, mRNA.	207					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular				breast(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1)|skin(1)	18						ACACCTGAGGCGGCTCCTCTT	0.567												
ZNF91	7644	broad.mit.edu	37	19	23545038	23545038	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr19:23545038T>C	uc002nre.3	-	3	856	c.743A>G	c.(742-744)aAg>aGg	p.K248R	ZNF91_uc010xrj.2_Missense_Mutation_p.K216R	NM_003430	NP_003421	Q05481	ZNF91_HUMAN	Homo sapiens zinc finger protein 91 (ZNF91), mRNA.	248						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				TGAGAGCTGCTTAAAAGCTTT	0.363												
HIPK4	147746	broad.mit.edu	37	19	40886782	40886782	+	Silent	SNP	C	C	T	rs148513270	byFrequency	TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr19:40886782C>T	uc002onp.3	-	2	1401	c.1116G>A	c.(1114-1116)tcG>tcA	p.S372S		NM_144685	NP_653286	Q8NE63	HIPK4_HUMAN	Homo sapiens homeodomain interacting protein kinase 4 (HIPK4), mRNA.	372						cytoplasm	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	20			Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)			CCACTTGCAGCGAGAGGCGGT	0.667												
NLRP11	204801	broad.mit.edu	37	19	56320789	56320789	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr19:56320789C>T	uc010ygf.2	-	4	1898	c.1187G>A	c.(1186-1188)cGt>cAt	p.R396H	NLRP11_uc002qlz.3_Missense_Mutation_p.R297H|NLRP11_uc002qmb.3_Missense_Mutation_p.R297H|NLRP11_uc002qmc.3_Non-coding_Transcript|NLRP11_uc010ete.1_Non-coding_Transcript	NM_145007	NP_659444	P59045	NAL11_HUMAN	Homo sapiens NLR family, pyrin domain containing 11 (NLRP11), mRNA.	396	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)		CAAACACAGACGTTTTAGGAG	0.493												
ZNF814	730051	broad.mit.edu	37	19	58385762	58385762	+	Silent	SNP	C	C	G			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr19:58385762C>G	uc002qqo.2	-	2	1268	c.996G>C	c.(994-996)tcG>tcC	p.S332S	ZNF814_uc002qqk.2_Intron|ZNF814_uc010yhl.2_Intron	NM_001144989	NP_001138461	B7Z6K7	ZN814_HUMAN	Homo sapiens zinc finger protein 814 (ZNF814), mRNA.	332					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.S332S(4)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						ATTTGCTAAACGATTTCCCAC	0.358												
SLC3A1	6519	broad.mit.edu	37	2	44527119	44527119	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr2:44527119C>T	uc002ruc.4	+	4	979	c.901C>T	c.(901-903)Cgg>Tgg	p.R301W	SLC3A1_uc002rty.3_Missense_Mutation_p.R301W|SLC3A1_uc002rtz.2_Missense_Mutation_p.R301W|SLC3A1_uc002rua.3_Missense_Mutation_p.R301W|SLC3A1_uc002rub.2_Missense_Mutation_p.R301W|SLC3A1_uc002rud.4_Missense_Mutation_p.R23W	NM_000341	NP_000332	Q07837	SLC31_HUMAN	Homo sapiens solute carrier family 3 (cystine, dibasic and neutral amino acid transporters, activator of cystine, dibasic and neutral amino acid transport), member 1 (SLC3A1), mRNA.	301					carbohydrate metabolic process|cellular amino acid metabolic process|ion transport	integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity|catalytic activity|cation binding|L-cystine transmembrane transporter activity			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(3)	26		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)			L-Cystine(DB00138)	GGAAATTTTACGGTTCTGGCT	0.363												
TSPYL6	388951	broad.mit.edu	37	2	54483145	54483145	+	Silent	SNP	C	C	G			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr2:54483145C>G	uc002rxr.2	-	0	265	c.144G>C	c.(142-144)gtG>gtC	p.V48V	ACYP2_uc002rxq.4_Intron	NM_001003937	NP_001003937	Q8N831	TSYL6_HUMAN	Homo sapiens TSPY-like 6 (TSPYL6), mRNA.	48					nucleosome assembly	nucleus				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(1)|ovary(1)|skin(1)|stomach(2)	20						GCGGTGGGAACACGATTGGCT	0.607												
C2orf62	375307	broad.mit.edu	37	2	219222293	219222293	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr2:219222293C>T	uc002vhr.3	+	2	184	c.155C>T	c.(154-156)aCg>aTg	p.T52M		NM_198559	NP_940961	Q7Z7H3	CB062_HUMAN	Homo sapiens chromosome 2 open reading frame 62 (C2orf62), mRNA.	52										endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16		Renal(207;0.0915)		Epithelial(149;8.08e-07)|all cancers(144;0.000146)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TTCTCTGAGACGCTGGCCATG	0.577												
DES	1674	broad.mit.edu	37	2	220290674	220290674	+	Missense_Mutation	SNP	G	G	A	rs73991549	byFrequency	TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr2:220290674G>A	uc002vll.3	+	8	1461	c.1375G>A	c.(1375-1377)Gtc>Atc	p.V459I		NM_001927	NP_001918	P17661	DESM_HUMAN	Homo sapiens desmin (DES), mRNA.	459	Tail.				cytoskeleton organization|muscle filament sliding|regulation of heart contraction	cytosol|Z disc	protein binding|structural constituent of cytoskeleton	p.V459I(2)		breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)	18		Renal(207;0.0183)		Epithelial(149;5.25e-07)|all cancers(144;0.000103)|Lung(261;0.00533)|LUSC - Lung squamous cell carcinoma(224;0.008)		TCCCCAGGTCGTCAGTGAGGC	0.607												
SEMG2	6406	broad.mit.edu	37	20	43836290	43836290	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr20:43836290A>G	uc010ggz.3	+						SEMG2_uc002xni.2_Missense_Mutation_p.K118E|SEMG2_uc002xnj.2_Missense_Mutation_p.K118E	NM_003008	NP_002999	Q02383	SEMG2_HUMAN	Homo sapiens semenogelin II (SEMG2), mRNA.						sexual reproduction	extracellular space|stored secretory granule	structural molecule activity			autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				AGACCATGATAAATCAAAAGG	0.408												
MC3R	4159	broad.mit.edu	37	20	54824329	54824329	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr20:54824329G>A	uc002xxb.2	+	0	542	c.430G>A	c.(430-432)Gtc>Atc	p.V144I		NM_019888	NP_063941	P41968	MC3R_HUMAN	Homo sapiens melanocortin 3 receptor (MC3R), mRNA.	181					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			CGACAGGTACGTCACCATCTT	0.582												
ITGB2	3689	broad.mit.edu	37	21	46320234	46320234	+	Splice_Site	SNP	C	C	T			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr21:46320234C>T	uc002zgd.2	-	6	941	c.897_splice	c.e6+1	p.F299_splice	ITGB2_uc002zgf.3_Splice_Site_p.F299_splice|ITGB2_uc011afl.1_Splice_Site_p.F221_splice|ITGB2_uc010gpw.2_Splice_Site_p.F242_splice|ITGB2_uc002zgg.2_Splice_Site_p.F299_splice	NM_001127491	NP_001120963	P05107	ITB2_HUMAN	Homo sapiens integrin, beta 2 (complement component 3 receptor 3 and 4 subunit) (ITGB2), transcript variant 2, mRNA.	299	VWFA.				apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity	p.?(1)		breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	TGGGGACTTACGAATTCGTTG	0.632												
BCRP3	644165	broad.mit.edu	37	22	25041687	25041687	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr22:25041687G>A	uc011ajv.2	+	2	674	c.317G>A	c.(316-318)cGg>cAg	p.R106Q	POM121L10P_uc003abc.2_Non-coding_Transcript					Homo sapiens breakpoint cluster region pseudogene 3 (BCRP3), non-coding RNA.																		AGGGGTCTTCGGAGTCAAGAT	0.542												
SGSM1	129049	broad.mit.edu	37	22	25315903	25315903	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr22:25315903C>T	uc003abg.2	+	24	3458	c.3301C>T	c.(3301-3303)Cgt>Tgt	p.R1101C	SGSM1_uc010guu.1_Missense_Mutation_p.R1046C|SGSM1_uc003abh.2_Missense_Mutation_p.R1040C|SGSM1_uc003abj.2_Missense_Mutation_p.R985C|SGSM1_uc003abi.1_Missense_Mutation_p.R1021C	NM_001039948	NP_001035037	Q2NKQ1	SGSM1_HUMAN	Homo sapiens small G protein signaling modulator 1 (SGSM1), transcript variant 1, mRNA.	1101						Golgi apparatus	Rab GTPase activator activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						GGAAGTCTACCGTGACATCAT	0.507												
THOC5	8563	broad.mit.edu	37	22	29913061	29913061	+	Silent	SNP	C	C	T			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr22:29913061C>T	uc003afr.3	-	17	1973	c.1638G>A	c.(1636-1638)ggG>ggA	p.G546G	THOC5_uc003afq.3_Silent_p.G207G|THOC5_uc003afs.3_Silent_p.G546G|THOC5_uc003aft.3_Silent_p.G546G|THOC5_uc003afu.3_Silent_p.G546G	NM_001002878	NP_003669	Q13769	THOC5_HUMAN	Homo sapiens THO complex 5 (THOC5), transcript variant 1, mRNA.	546					intronless viral mRNA export from host nucleus|monocyte differentiation|mRNA processing|primitive hemopoiesis|RNA splicing	cytoplasm|intermediate filament cytoskeleton|THO complex part of transcription export complex	protein binding|RNA binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GATTGGTGTCCCCAGCCAGTC	0.527												
KCNH8	131096	broad.mit.edu	37	3	19575121	19575121	+	Missense_Mutation	SNP	A	A	T			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr3:19575121A>T	uc003cbk.1	+	15	3049	c.2854A>T	c.(2854-2856)Agt>Tgt	p.S952C	KCNH8_uc010hex.1_Missense_Mutation_p.S413C	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 8 (KCNH8), mRNA.	952	Ser-rich.					integral to membrane	two-component sensor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						ACTTTGTAGCAGTAATATCAC	0.532												
CCR8	1237	broad.mit.edu	37	3	39374303	39374303	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr3:39374303G>A	uc010hhr.2	+	1	619	c.481G>A	c.(481-483)Gcc>Acc	p.A161T	CCR8_uc003cjm.2_Missense_Mutation_p.A78T|CCR8_uc021wwe.1_Missense_Mutation_p.A161T	NM_005201	NP_005192	P51685	CCR8_HUMAN	Homo sapiens chemokine (C-C motif) receptor 8 (CCR8), mRNA.	161					cell adhesion|chemotaxis|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane	coreceptor activity			NS(3)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0504)|Kidney(284;0.0635)		ATGGCTAACCGCCATTATGGC	0.488												
MST1	4485	broad.mit.edu	37	3	49724141	49724144	+	Frame_Shift_Del	DEL	CTCG	CTCG	-			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr3:49724141_49724144delCTCG	uc003cxg.3	-	6	892_895	c.820_823delCGAG	c.(820-825)cgagagfs	p.R274fs	MST1_uc011bcs.1_Frame_Shift_Del_p.S272fs|MST1_uc010hkx.2_Frame_Shift_Del_p.R195fs|MST1_uc011bct.1_Frame_Shift_Del_p.R274fs|MST1_uc011bcu.1_Non-coding_Transcript|RNF123_uc003cxh.3_5'Flank	NM_020998	NP_066278	P26927	HGFL_HUMAN	Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) (MST1), mRNA.	260					proteolysis	extracellular region	serine-type endopeptidase activity	p.R275H(1)		NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TCACAGAACTCTCGCTCGATCTGC	0.662												
COL6A6	131873	broad.mit.edu	37	3	130284156	130284156	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr3:130284156G>A	uc010htl.3	+	2	1011	c.980G>A	c.(979-981)cGg>cAg	p.R327Q		NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	Homo sapiens collagen, type VI, alpha 6 (COL6A6), mRNA.	327	Nonhelical region.|VWFA 2.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						AATGGCAGTCGGAAGAATCAG	0.532												
AMBN	258	broad.mit.edu	37	4	71467259	71467259	+	Missense_Mutation	SNP	T	T	A			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr4:71467259T>A	uc003hfl.3	+	5	520	c.419T>A	c.(418-420)cTg>cAg	p.L140Q		NM_016519	NP_057603	Q9NP70	AMBN_HUMAN	Homo sapiens ameloblastin (enamel matrix protein) (AMBN), mRNA.	140					bone mineralization|cell adhesion|cell proliferation|odontogenesis of dentine-containing tooth	proteinaceous extracellular matrix	growth factor activity|structural constituent of tooth enamel			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)	29			Lung(101;0.235)			GCCACAGCACTGAAAGAAGCA	0.557											OREG0016218	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
ADAM29	11086	broad.mit.edu	37	4	175896768	175896768	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr4:175896768C>T	uc003iuc.3	+	4	762	c.92C>T	c.(91-93)cCg>cTg	p.P31L	ADAM29_uc003iud.3_Missense_Mutation_p.P31L|ADAM29_uc010irr.3_Missense_Mutation_p.P31L|ADAM29_uc011cki.2_Missense_Mutation_p.P31L|ADAM29_uc021xuo.1_Missense_Mutation_p.P31L	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN	Homo sapiens ADAM metallopeptidase domain 29 (ADAM29), transcript variant 1, mRNA.	31			P -> L (in a colorectal cancer sample; somatic mutation).		proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	p.P31L(4)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		CACAGCCCTCCGGATGTGGTG	0.517												
ZDHHC11	79844	broad.mit.edu	37	5	837585	837585	+	Silent	SNP	C	C	T			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr5:837585C>T	uc011cma.1	-	5	1179	c.795G>A	c.(793-795)aaG>aaA	p.K265K	ZDHHC11_uc010itd.1_Non-coding_Transcript	NM_024786	NP_079062	Q9H8X9	ZDH11_HUMAN	Homo sapiens zinc finger, DHHC-type containing 11 (ZDHHC11), mRNA.	265						integral to membrane	acyltransferase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(10)|pancreas(1)|prostate(5)|skin(2)|urinary_tract(1)	21			Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)			AGGTGGTCATCTTCTTGGCCT	0.502												
EDIL3	10085	broad.mit.edu	37	5	83433171	83433171	+	Silent	SNP	G	G	A			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr5:83433171G>A	uc003kio.1	-	5	775	c.356_splice	c.e5-1	p.N119_splice	EDIL3_uc003kip.1_Splice_Site_p.N109_splice	NM_005711	NP_005702	O43854	EDIL3_HUMAN	Homo sapiens EGF-like repeats and discoidin I-like domains 3 (EDIL3), mRNA.	119	EGF-like 3.				cell adhesion|multicellular organismal development	extracellular region	calcium ion binding|integrin binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)		ATTCATTTATGTCTAAGAAAA	0.338												
PCDHGC5	56106	broad.mit.edu	37	5	140794507	140794507	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr5:140794507G>A	uc003lkl.2	+	0	1765	c.1765G>A	c.(1765-1767)Ggc>Agc	p.G589S	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc011day.2_Missense_Mutation_p.G589S|PCDHGC5_uc003lkm.3_5'Flank|PCDHGC5_uc003lkn.2_5'Flank	NM_018913	NP_061736	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 10 (PCDHGA10), transcript variant 1, mRNA.	586	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCAGAGCCCGGCTACCTGGT	0.677												
TRIM38	10475	broad.mit.edu	37	6	25966964	25966964	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr6:25966964C>T	uc003nfm.3	+	2	649	c.214C>T	c.(214-216)Cga>Tga	p.R72*		NM_006355	NP_006346	O00635	TRI38_HUMAN	Homo sapiens tripartite motif containing 38 (TRIM38), mRNA.	72					positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular	signal transducer activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	23						GGATAGCCTCCGACCCAACAA	0.498												
HLA-F	3134	broad.mit.edu	37	6	29694676	29694676	+	Silent	SNP	C	C	T			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr6:29694676C>T	uc003nno.4	+	6	1177	c.1053C>T	c.(1051-1053)agC>agT	p.S351S	HLA-F_uc011dlx.1_Silent_p.S351S|HLA-F_uc011dly.1_Non-coding_Transcript|HLA-F-AS1_uc003nnp.2_Non-coding_Transcript|HLA-F-AS1_uc011dlz.1_Non-coding_Transcript	NM_001098479	NP_001091949	P30511	HLAF_HUMAN	Homo sapiens major histocompatibility complex, class I, F (HLA-F), transcript variant 1, mRNA.	0					antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						CAGTGGTCAGCGGAAACTTGA	0.493												
CRISP3	10321	broad.mit.edu	37	6	49704218	49704218	+	Silent	SNP	A	A	G			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr6:49704218A>G	uc021zai.1	-	2	232	c.144T>C	c.(142-144)gaT>gaC	p.D48D	CRISP3_uc003ozs.3_Silent_p.D38D	NM_001190986	NP_001177915	P54108	CRIS3_HUMAN	Homo sapiens cysteine-rich secretory protein 3 (CRISP3), transcript variant 2, mRNA.	25					innate immune response	proteinaceous extracellular matrix|specific granule				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|skin(6)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			TAAAAGCGGGATCCTAAGGGA	0.363												
POM121L12	285877	broad.mit.edu	37	7	53103391	53103391	+	Silent	SNP	C	C	T			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr7:53103391C>T	uc003tpz.3	+	0	43	c.27C>T	c.(25-27)tcC>tcT	p.S9S		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	Homo sapiens POM121 membrane glycoprotein-like 12 (POM121L12), mRNA.	9										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CGGCCGAGTCCGCAGACCTCG	0.697												
EGFR	1956	broad.mit.edu	37	7	55211080	55211080	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr7:55211080G>A	uc003tqk.3	+	2	569	c.323G>A	c.(322-324)aGa>aAa	p.R108K	EGFR_uc003tqh.3_Missense_Mutation_p.R108K|EGFR_uc003tqi.3_Missense_Mutation_p.R108K|EGFR_uc003tqj.3_Missense_Mutation_p.R108K|EGFR_uc022adm.1_Missense_Mutation_p.R108K|EGFR_uc010kzg.2_Missense_Mutation_p.R108K|EGFR_uc022adn.1_Missense_Mutation_p.R108K|EGFR_uc011kco.2_Missense_Mutation_p.R55K	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	108					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.R108K(13)|p.V30_R297>G(5)		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)	CAGATCATCAGAGGAAATATG	0.423		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)		
EGFR	1956	broad.mit.edu	37	7	55233036	55233036	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr7:55233036C>T	uc003tqk.3	+	14	2032	c.1786C>T	c.(1786-1788)Ccg>Tcg	p.P596S	EGFR_uc003tqi.3_Missense_Mutation_p.P596S|EGFR_uc003tqj.3_Missense_Mutation_p.P596S|EGFR_uc022adm.1_Missense_Mutation_p.P596S|EGFR_uc010kzg.2_Missense_Mutation_p.P551S|EGFR_uc022adn.1_Missense_Mutation_p.P551S|EGFR_uc011kco.2_Missense_Mutation_p.P543S|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_Non-coding_Transcript|EGFR_uc003tqn.3_Non-coding_Transcript	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	596					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.P596L(3)		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)	CAAGACCTGCCCGGCAGGAGT	0.567		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)		
EGFR	1956	broad.mit.edu	37	7	55233043	55233043	+	Missense_Mutation	SNP	G	G	C	rs139236063		TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr7:55233043G>C	uc003tqk.3	+	14	2039	c.1793G>C	c.(1792-1794)gGa>gCa	p.G598A	EGFR_uc003tqi.3_Missense_Mutation_p.G598A|EGFR_uc003tqj.3_Missense_Mutation_p.G598A|EGFR_uc022adm.1_Missense_Mutation_p.G598A|EGFR_uc010kzg.2_Missense_Mutation_p.G553A|EGFR_uc022adn.1_Missense_Mutation_p.G553A|EGFR_uc011kco.2_Missense_Mutation_p.G545A|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_Non-coding_Transcript|EGFR_uc003tqn.3_Non-coding_Transcript	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	598					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.G598V(31)|p.A597T(1)|p.A597P(1)		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)	TGCCCGGCAGGAGTCATGGGA	0.567		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)		
PCLO	27445	broad.mit.edu	37	7	82764904	82764904	+	Silent	SNP	C	C	T			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr7:82764904C>T	uc003uhx.2	-	2	2251	c.1962G>A	c.(1960-1962)ccG>ccA	p.P654P	PCLO_uc003uhv.2_Silent_p.P654P	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	600	Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.P654P(3)|p.P600P(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GGGGTGATGACGGAACTGGAG	0.478												
NPTX2	4885	broad.mit.edu	37	7	98254472	98254472	+	Silent	SNP	C	C	T	rs149672697		TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr7:98254472C>T	uc003upl.2	+	2	1059	c.882C>T	c.(880-882)aaC>aaT	p.N294N		NM_002523	NP_002514	P47972	NPTX2_HUMAN	Homo sapiens neuronal pentraxin II (NPTX2), mRNA.	294	Pentaxin.				synaptic transmission	extracellular region	metal ion binding|sugar binding	p.N294N(2)		breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			TGCTCATCAACGACAAGGTGA	0.667												
LAMB1	3912	broad.mit.edu	37	7	107600136	107600136	+	Missense_Mutation	SNP	G	G	A	rs140619520		TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr7:107600136G>A	uc003vev.2	-	17	2691	c.2530_splice	c.e17+1	p.P844_splice	LAMB1_uc003vew.2_Splice_Site_p.P820_splice|LAMB1_uc003vex.3_Missense_Mutation_p.R820C	NM_002291	NP_002282	P07942	LAMB1_HUMAN	Homo sapiens laminin, beta 1 (LAMB1), mRNA.	820	Laminin EGF-like 7.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent	p.P820S(1)		NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGGAACCTACGTTTGCATCCA	0.527												
ASB15	142685	broad.mit.edu	37	7	123276864	123276864	+	Silent	SNP	G	G	A			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr7:123276864G>A	uc003vku.1	+	12	1887	c.1595_splice	c.e12-1	p.E532_splice	ASB15_uc003vkw.1_Splice_Site_p.E532_splice	NM_080928	NP_563616	Q8WXK1	ASB15_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 15 (ASB15), mRNA.	532	SOCS box.				intracellular signal transduction					breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						TTCTTTTAGAGAATCCTTGTT	0.383												
NUP205	23165	broad.mit.edu	37	7	135300745	135300745	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr7:135300745G>A	uc003vsw.3	+	23	3423	c.3392G>A	c.(3391-3393)cGt>cAt	p.R1131H		NM_015135	NP_055950	Q92621	NU205_HUMAN	Homo sapiens nucleoporin 205kDa (NUP205), mRNA.	1131					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						TCTCTGAATCGTCAGCGGTCA	0.403												
TRPA1	8989	broad.mit.edu	37	8	72948640	72948640	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr8:72948640G>A	uc003xza.3	-	20	2613	c.2438C>T	c.(2437-2439)aCg>aTg	p.T813M	LOC100132891_uc011lff.2_Intron|LOC100132891_uc022avt.1_Intron|LOC100132891_uc003xyy.3_Intron	NM_007332	NP_015628	O75762	TRPA1_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily A, member 1 (TRPA1), mRNA.	813						integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	GATGCCCGTCGTGTAGATAAT	0.363												
SPTAN1	6709	broad.mit.edu	37	9	131395212	131395212	+	Missense_Mutation	SNP	T	T	A	rs148173166		TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr9:131395212T>A	uc004bvl.4	+	54	7413	c.7271T>A	c.(7270-7272)gTg>gAg	p.V2424E	SPTAN1_uc004bvm.4_Missense_Mutation_p.V2429E|SPTAN1_uc004bvn.4_Missense_Mutation_p.V2404E|SPTAN1_uc004bvo.4_Missense_Mutation_p.V191E	NM_003127	NP_003118	Q13813	SPTA2_HUMAN	Homo sapiens spectrin, alpha, non-erythrocytic 1 (alpha-fodrin) (SPTAN1), transcript variant 2, mRNA.	2424	EF-hand 3.				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						AAGCCTTACGTGACCAAGGAG	0.547												
C9orf171	389799	broad.mit.edu	37	9	135374872	135374872	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr9:135374872G>C	uc004cbn.3	+	3	565	c.517G>C	c.(517-519)Gag>Cag	p.E173Q	C9orf171_uc004cbo.3_Missense_Mutation_p.E137Q	NM_207417	NP_997300	Q6ZQR2	CI171_HUMAN	Homo sapiens chromosome 9 open reading frame 171 (C9orf171), mRNA.	173								p.R172W(1)		large_intestine(7)|lung(9)|ovary(4)|prostate(3)	23						GACTGCCCGGGAGAACTTGCT	0.592												
FAM46D	169966	broad.mit.edu	37	X	79699116	79699116	+	Missense_Mutation	SNP	A	A	T			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chrX:79699116A>T	uc022bzm.1	+	0	1078	c.1078A>T	c.(1078-1080)Agg>Tgg	p.R360W	FAM46D_uc004edl.1_Missense_Mutation_p.R360W|FAM46D_uc004edm.2_Missense_Mutation_p.R360W	NM_152630	NP_689843	Q8NEK8	FA46D_HUMAN	Homo sapiens family with sequence similarity 46, member D (FAM46D), transcript variant 2, mRNA.	360										kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23						AGCTGAGGCAAGGTACCCTAT	0.428												
SPRY3	10251	broad.mit.edu	37	X	155004303	155004303	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chrX:155004303G>A	uc022cio.1	+	0	770	c.770G>A	c.(769-771)cGa>cAa	p.R257Q	SPRY3_uc004fnq.1_Missense_Mutation_p.R257Q	NM_005840	NP_005831	O43610	SPY3_HUMAN	Homo sapiens sprouty homolog 3 (Drosophila) (SPRY3), mRNA.	257	Cys-rich.|SPR.				multicellular organismal development|regulation of signal transduction	cytoplasm|membrane						all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					AGCCTCCGGCGACCAGGCTGC	0.582