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
AADACL3	126767	broad.mit.edu	37	1	12785683	12785683	+	Missense_Mutation	SNP	T	T	C			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr1:12785683T>C	uc009vnn.1	+	3	1006	c.773T>C	c.(772-774)gTa>gCa	p.V258A	AADACL3_uc001aug.1_Missense_Mutation_p.V188A	NM_001103170	NP_001096640	Q5VUY0	ADCL3_HUMAN	Homo sapiens arylacetamide deacetylase-like 3 (AADACL3), transcript variant 1, mRNA.	258							hydrolase activity			breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	15	Ovarian(185;0.249)	Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		TACTTGGAAGTAAGTGTTGTC	0.502												
C1orf129	80133	broad.mit.edu	37	1	170964598	170964598	+	Silent	SNP	C	C	T			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr1:170964598C>T	uc010plz.2	+	12	1417	c.1263C>T	c.(1261-1263)ccC>ccT	p.P421P	C1orf129_uc001ghg.3_Silent_p.P421P|C1orf129_uc009wvy.3_Silent_p.P228P	NM_001163629	NP_001157101	Q5TGP6	CA129_HUMAN	Homo sapiens chromosome 1 open reading frame 129 (C1orf129), transcript variant 1, mRNA.	421							binding	p.P421S(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(16)|pancreas(1)|prostate(1)|skin(3)	45	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					AGTATTTCCCCCAGCTCTTGA	0.473												
OR52B4	143496	broad.mit.edu	37	11	4389252	4389252	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr11:4389252C>T	uc010qye.2	-	0	365	c.274G>A	c.(274-276)Ggg>Agg	p.G92R		NM_001005161	NP_001005161	Q8NGK2	O52B4_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily B, member 4 (OR52B4), mRNA.	92					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(15)|skin(2)	31		Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577)		Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19)		GAGATGTCCCCAGCACGGAAC	0.527												
ANO5	203859	broad.mit.edu	37	11	22296134	22296134	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr11:22296134C>T	uc001mqi.2	+	19	2572	c.2255C>T	c.(2254-2256)aCg>aTg	p.T752M	ANO5_uc001mqj.2_Missense_Mutation_p.T751M	NM_213599	NP_998764	Q75V66	ANO5_HUMAN	Homo sapiens anoctamin 5 (ANO5), transcript variant 1, mRNA.	752						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						GTTGCATTTACGTCAGACATC	0.363												
OR8K3	219473	broad.mit.edu	37	11	56085826	56085826	+	Missense_Mutation	SNP	C	C	T	rs149952066		TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr11:56085826C>T	uc010rjf.2	+	0	44	c.44C>T	c.(43-45)aCg>aTg	p.T15M		NM_001005202	NP_001005202	Q8NH51	OR8K3_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily K, member 3 (OR8K3), mRNA.	15					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					TTCATTCTTACGGGAATCACA	0.423												
MS4A12	54860	broad.mit.edu	37	11	60264794	60264794	+	Missense_Mutation	SNP	G	G	C			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr11:60264794G>C	uc001npr.3	+	1	60	c.3G>C	c.(1-3)atG>atC	p.M1I	MS4A12_uc009ynb.3_Missense_Mutation_p.M1I|MS4A12_uc021qkb.1_Missense_Mutation_p.M1I	NM_017716	NP_060186	Q9NXJ0	M4A12_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 12 (MS4A12), transcript variant 1, mRNA.	1						integral to membrane	receptor activity			breast(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)	17						AGGACATAATGATGTCATCCA	0.383												
PANX1	24145	broad.mit.edu	37	11	93911644	93911644	+	Missense_Mutation	SNP	A	A	T			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr11:93911644A>T	uc001per.3	+	2	816	c.431A>T	c.(430-432)gAa>gTa	p.E144V	PANX1_uc001peq.3_Missense_Mutation_p.E144V	NM_015368	NP_056183	Q96RD7	PANX1_HUMAN	Homo sapiens pannexin 1 (PANX1), mRNA.	144					positive regulation of interleukin-1 beta secretion|protein hexamerization|synaptic transmission	bleb|endoplasmic reticulum membrane|gap junction|integral to membrane	calcium channel activity|gap junction hemi-channel activity|leak channel activity|receptor binding			endometrium(2)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TTTATCATGGAAGAACTTGAC	0.502												
UBE4A	9354	broad.mit.edu	37	11	118255613	118255613	+	Missense_Mutation	SNP	A	A	T			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr11:118255613A>T	uc001psw.3	+	14	2500	c.2365A>T	c.(2365-2367)Aac>Tac	p.N789Y	UBE4A_uc001psv.3_Missense_Mutation_p.N796Y	NM_001204077	NP_001191006	Q14139	UBE4A_HUMAN	Homo sapiens ubiquitination factor E4A (UBE4A), transcript variant 2, mRNA.	789					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	56	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		CCGCTTTCTTAACCTGCTAAT	0.373												
ITPR2	3709	broad.mit.edu	37	12	26868282	26868282	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr12:26868282G>A	uc001rhg.3	-	7	1222	c.805C>T	c.(805-807)Cgc>Tgc	p.R269C		NM_002223	NP_002214	Q14571	ITPR2_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 2 (ITPR2), mRNA.	269	Inositol-1,4,5-triphosphate binding (By similarity).|MIR 3.				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					GCTGATTGGCGCAAGGTCGTA	0.363												
MTUS2	23281	broad.mit.edu	37	13	29600584	29600584	+	Silent	SNP	G	G	A			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr13:29600584G>A	uc001usl.4	+	0	1837	c.1779G>A	c.(1777-1779)acG>acA	p.T593T		NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	Homo sapiens microtubule associated tumor suppressor candidate 2 (MTUS2), transcript variant 1, mRNA.	583						cytoplasm|microtubule	microtubule binding|protein homodimerization activity	p.T593T(2)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						TGTTGAACACGTCCCCCAAAG	0.552												
OTX2	5015	broad.mit.edu	37	14	57269020	57269020	+	Missense_Mutation	SNP	C	C	A			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr14:57269020C>A	uc001xcq.3	-	4	601	c.327G>T	c.(325-327)caG>caT	p.Q109H	OTX2_uc001xcp.3_Missense_Mutation_p.Q101H|OTX2_uc021rtm.1_5'UTR|OTX2_uc010aou.3_Missense_Mutation_p.Q101H	NM_021728	NP_068374	P32243	OTX2_HUMAN	Homo sapiens orthodenticle homeobox 2 (OTX2), transcript variant 1, mRNA.	101					axon guidance|forebrain development|midbrain development|positive regulation of embryonic development|positive regulation of gastrulation|primitive streak formation|protein complex assembly|regulation of fibroblast growth factor receptor signaling pathway|regulation of smoothened signaling pathway	growth cone|nucleus|protein complex	eukaryotic initiation factor 4E binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding	p.Q109P(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	19	Medulloblastoma(1;0.00184)|all_neural(1;0.00414)					GACCTCCATTCTGCTGTTGTT	0.448												
VPS18	57617	broad.mit.edu	37	15	41193044	41193044	+	Silent	SNP	G	G	A			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr15:41193044G>A	uc001zne.3	+	3	2367	c.2028G>A	c.(2026-2028)ccG>ccA	p.P676P		NM_020857	NP_065908	Q9P253	VPS18_HUMAN	Homo sapiens vacuolar protein sorting 18 homolog (S. cerevisiae) (VPS18), mRNA.	676					endosome organization|lysosome organization|protein transport	HOPS complex|late endosome membrane|lysosomal membrane	metal ion binding|protein binding			autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	28		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		GTGGCCGGCCGGACTCACTAC	0.647												
SLC27A2	11001	broad.mit.edu	37	15	50475097	50475097	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr15:50475097C>T	uc001zxw.3	+	0	705	c.473C>T	c.(472-474)tCg>tTg	p.S158L	SLC27A2_uc010bes.3_Missense_Mutation_p.S158L	NM_003645	NP_003636	O14975	S27A2_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 2 (SLC27A2), transcript variant 1, mRNA.	158					bile acid biosynthetic process|fatty acid alpha-oxidation	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity			NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_lung(180;0.00177)		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)		CTGCTGGTGTCGCCAGGTGAG	0.652												
ITGA11	22801	broad.mit.edu	37	15	68641185	68641185	+	Frame_Shift_Del	DEL	A	A	-			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr15:68641185delA	uc010bib.3	-	9	1201	c.1114delT	c.(1114-1116)tccfs	p.S372fs	ITGA11_uc002ari.3_Frame_Shift_Del_p.S372fs	NM_001004439	NP_001004439	Q9UKX5	ITA11_HUMAN	Homo sapiens integrin, alpha 11 (ITGA11), mRNA.	372					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52					Tirofiban(DB00775)	ACGTGCGAGGAAAAGCCCGTC	0.562												
TARSL2	123283	broad.mit.edu	37	15	102242566	102242566	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr15:102242566C>T	uc002bxm.3	-	8	1152	c.1097G>A	c.(1096-1098)gGc>gAc	p.G366D	TARSL2_uc002bxl.3_5'UTR|TARSL2_uc010usi.2_Non-coding_Transcript	NM_152334	NP_689547	A2RTX5	SYTC2_HUMAN	Homo sapiens threonyl-tRNA synthetase-like 2 (TARSL2), mRNA.	366					threonyl-tRNA aminoacylation	cytoplasm	ATP binding|threonine-tRNA ligase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|skin(1)|urinary_tract(1)	29	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TTCCGGATTGCCCTCCCAATA	0.353												
MSLNL	401827	broad.mit.edu	37	16	830269	830269	+	Silent	SNP	G	G	A			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr16:830269G>A	uc002cjz.1	-	2	732	c.732C>T	c.(730-732)tcC>tcT	p.S244S		NM_001025190	NP_001020361	Q96KJ4	MSLNL_HUMAN	Homo sapiens mesothelin-like (MSLNL), mRNA.	0					cell adhesion	integral to membrane				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						TGAGGCCAGAGGACATGGAGG	0.677												
SRRM2	23524	broad.mit.edu	37	16	2812977	2812977	+	Silent	SNP	C	C	T			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr16:2812977C>T	uc002crk.3	+	10	2997	c.2448C>T	c.(2446-2448)cgC>cgT	p.R816R	SRRM2_uc002crj.1_Silent_p.R720R|SRRM2_uc002crl.1_Silent_p.R816R|SRRM2_uc010bsu.1_Silent_p.R720R	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	Homo sapiens serine/arginine repetitive matrix 2 (SRRM2), mRNA.	816	Arg-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding	p.R816H(1)|p.S815I(1)		breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						GACGCAGTCGCTCCAGTTCTT	0.498												
SRRM2	23524	broad.mit.edu	37	16	2813966	2813966	+	Missense_Mutation	SNP	C	C	G			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr16:2813966C>G	uc002crk.3	+	10	3986	c.3437C>G	c.(3436-3438)cCt>cGt	p.P1146R	SRRM2_uc002crj.1_Missense_Mutation_p.P1050R|SRRM2_uc002crl.1_Missense_Mutation_p.P1146R|SRRM2_uc010bsu.1_Missense_Mutation_p.P1050R	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	Homo sapiens serine/arginine repetitive matrix 2 (SRRM2), mRNA.	1146	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						TCTTCATATCCTACAGTGGAC	0.468												
GRIN2A	2903	broad.mit.edu	37	16	9857538	9857538	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr16:9857538C>T	uc010uym.2	-	13	4173	c.3863G>A	c.(3862-3864)cGt>cAt	p.R1288H	GRIN2A_uc002czo.4_Missense_Mutation_p.R1288H|GRIN2A_uc010uyn.2_Intron|GRIN2A_uc002czr.4_Intron	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	1288					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GGAATGCTGACGGCTAATCCT	0.537												
TUBB8P7	197331	broad.mit.edu	37	16	90161578	90161578	+	Silent	SNP	G	G	A	rs13337896	by1000genomes	TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr16:90161578G>A	uc002fqq.3	+	3	504	c.504G>A	c.(502-504)acG>acA	p.T168T	BC139719_uc002fqp.3_Silent_p.T151T					Homo sapiens, Similar to tubulin, beta, 2, clone IMAGE:4873024, mRNA.									p.R105H(3)									GCCAAGGGACGCTACACCGAA	0.587												
MYH13	8735	broad.mit.edu	37	17	10233822	10233822	+	Missense_Mutation	SNP	G	G	T			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr17:10233822G>T	uc002gmk.1	-	20	2407	c.2317C>A	c.(2317-2319)Ctc>Atc	p.L773I		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.	773	Actin-binding (By similarity).|Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						AGTCCCAGGAGCCCAGCTTTG	0.557												
KRT33A	3883	broad.mit.edu	37	17	39506758	39506758	+	Missense_Mutation	SNP	T	T	G			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr17:39506758T>G	uc002hwk.1	-	0	299	c.262A>C	c.(262-264)Atc>Ctc	p.I88L		NM_004138	NP_004129	O76009	KT33A_HUMAN	Homo sapiens keratin 33A (KRT33A), mRNA.	88	Coil 1A.|Rod.					intermediate filament	protein binding|structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	21		Breast(137;0.000496)				CGCTCCCGGATGAGGTTCTCC	0.612												
OTOP2	92736	broad.mit.edu	37	17	72923832	72923832	+	Frame_Shift_Del	DEL	C	C	-			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr17:72923832delC	uc010wrp.2	+	4	674	c.582delC	c.(580-582)cacfs	p.H194fs	OTOP2_uc002jmf.1_3'UTR	NM_178160	NP_835454	Q7RTS6	OTOP2_HUMAN	Homo sapiens otopetrin 2 (OTOP2), mRNA.	194						integral to membrane				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|prostate(4)|skin(1)|urinary_tract(2)	39	all_lung(278;0.172)|Lung NSC(278;0.207)					AATCTGTGCACCAATCCCACT	0.582												
DSC1	1823	broad.mit.edu	37	18	28723628	28723628	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr18:28723628C>T	uc002kwn.3	-	7	1328	c.1066G>A	c.(1066-1068)Gaa>Aaa	p.E356K	DSC1_uc002kwm.3_Missense_Mutation_p.E356K	NM_024421	NP_077739	Q08554	DSC1_HUMAN	Homo sapiens desmocollin 1 (DSC1), transcript variant Dsc1a, mRNA.	356	Cadherin 3.				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			ACAGAAGTTTCTGTGAAAGAT	0.358												
TNFSF9	8744	broad.mit.edu	37	19	6535006	6535006	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr19:6535006G>A	uc002mfh.2	+	2	732	c.694G>A	c.(694-696)Gcc>Acc	p.A232T		NM_003811	NP_003802	P41273	TNFL9_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 9 (TNFSF9), mRNA.	232					apoptosis|cell proliferation|cell-cell signaling|immune response|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding	p.G231G(2)		central_nervous_system(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	5						TACCCAGGGCGCCACAGTCTT	0.662												
MUC16	94025	broad.mit.edu	37	19	9049297	9049297	+	Silent	SNP	C	C	T			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr19:9049297C>T	uc002mkp.3	-	4	32538	c.32334G>A	c.(32332-32334)tcG>tcA	p.S10778S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	10780	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTGGAATGGCCGAACTTGTCT	0.468												
ZNF536	9745	broad.mit.edu	37	19	31039659	31039659	+	Missense_Mutation	SNP	G	G	T			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr19:31039659G>T	uc002nsu.1	+	3	3271	c.3133G>T	c.(3133-3135)Gcc>Tcc	p.A1045S	ZNF536_uc010edd.1_Missense_Mutation_p.A1045S	NM_014717	NP_055532	O15090	ZN536_HUMAN	Homo sapiens zinc finger protein 536 (ZNF536), mRNA.	1045					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.Q1044*(1)|p.A1045A(1)|p.A1045V(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CAAAGACCAAGCCCGGGAGGC	0.537												
CD22	933	broad.mit.edu	37	19	35828889	35828889	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr19:35828889C>T	uc010edt.3	+	4	1034	c.950C>T	c.(949-951)cCg>cTg	p.P317L	CD22_uc010edu.3_Missense_Mutation_p.P317L|CD22_uc010edv.3_Missense_Mutation_p.P317L|CD22_uc002nzb.4_Intron|CD22_uc010xst.2_Missense_Mutation_p.P145L|CD22_uc010edx.3_Non-coding_Transcript	NM_001771	NP_001762	P20273	CD22_HUMAN	Homo sapiens CD22 molecule (CD22), transcript variant 1, mRNA.	317	Ig-like C2-type 2.				cell adhesion		protein binding|sugar binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		OspA lipoprotein(DB00045)	GACGTGGGCCCGGGAAGGTCG	0.602												
SHKBP1	92799	broad.mit.edu	37	19	41096902	41096902	+	Missense_Mutation	SNP	A	A	G			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr19:41096902A>G	uc002oob.3	+	17	1962	c.1913A>G	c.(1912-1914)aAc>aGc	p.N638S	SHKBP1_uc002ooc.3_Missense_Mutation_p.N613S|SHKBP1_uc002ooe.3_Missense_Mutation_p.N475S|SHKBP1_uc010xvm.2_Missense_Mutation_p.N418S|SHKBP1_uc010xvn.2_Missense_Mutation_p.N516S|LTBP4_uc002oog.1_5'Flank	NM_138392	NP_612401	Q8TBC3	SHKB1_HUMAN	Homo sapiens SH3KBP1 binding protein 1 (SHKBP1), mRNA.	638						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1)	29			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GCCTCCAGCAACACCTCCTTG	0.662												
MFSD9	84804	broad.mit.edu	37	2	103335367	103335367	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr2:103335367G>A	uc002tcb.2	-	5	1005	c.937C>T	c.(937-939)Cgc>Tgc	p.R313C	MFSD9_uc010fja.2_Non-coding_Transcript|MFSD9_uc021vls.1_Missense_Mutation_p.R252C	NM_032718	NP_116107	Q8NBP5	MFSD9_HUMAN	Homo sapiens major facilitator superfamily domain containing 9 (MFSD9), mRNA.	313					transmembrane transport	integral to membrane|plasma membrane	transporter activity			breast(3)|large_intestine(7)|liver(1)|lung(6)|ovary(2)|skin(1)	20						ACCCCAAAGCGCTCCTCCAGG	0.587												
SLC5A7	60482	broad.mit.edu	37	2	108626710	108626710	+	Frame_Shift_Del	DEL	G	G	-			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr2:108626710delG	uc002tdv.3	+	8	1412	c.1136delG	c.(1135-1137)tggfs	p.W379fs	SLC5A7_uc010ywm.2_Frame_Shift_Del_p.W132fs|SLC5A7_uc010fjj.3_Frame_Shift_Del_p.W379fs|SLC5A7_uc010ywn.2_Frame_Shift_Del_p.W266fs	NM_021815	NP_068587	Q9GZV3	SC5A7_HUMAN	Homo sapiens solute carrier family 5 (choline transporter), member 7 (SLC5A7), mRNA.	379					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity	p.V378I(2)|p.V378V(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	GAAATCGTTTGGGTTATGCGA	0.443												
WNT10A	80326	broad.mit.edu	37	2	219746954	219746954	+	Missense_Mutation	SNP	T	T	C			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr2:219746954T>C	uc002vjd.1	+	1	648	c.185T>C	c.(184-186)cTa>cCa	p.L62P		NM_025216	NP_079492	Q9GZT5	WN10A_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 10A (WNT10A), mRNA.	62					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to transforming growth factor beta stimulus|female gonad development|hair follicle morphogenesis|odontogenesis|regulation of odontogenesis of dentine-containing tooth|sebaceous gland development|skin development|tongue development|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			breast(1)|cervix(1)|endometrium(2)|lung(6)|skin(2)	12		Renal(207;0.0474)		Epithelial(149;4.26e-07)|all cancers(144;8.8e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACAGTGTGCCTAACATTGCCA	0.612												
AGAP1	116987	broad.mit.edu	37	2	236659063	236659063	+	Silent	SNP	C	C	T			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr2:236659063C>T	uc002vvs.3	+	5	1202	c.604C>T	c.(604-606)Ctg>Ttg	p.L202L	AGAP1_uc002vvt.3_Silent_p.L202L|AGAP1_uc021vyp.1_Silent_p.L202L	NM_001037131	NP_001032208	Q9UPQ3	AGAP1_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 1 (AGAP1), transcript variant 1, mRNA.	202	Small GTPase-like.				protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						CTCCAACGACCTGAAACGGTG	0.527												
FRG1B	284802	broad.mit.edu	37	20	29625885	29625885	+	Missense_Mutation	SNP	A	A	T			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr20:29625885A>T	uc010ztl.1	+	1	71	c.39A>T	c.(37-39)aaA>aaT	p.K13N	FRG1B_uc002wvm.1_Non-coding_Transcript|FRG1B_uc010ztj.1_Non-coding_Transcript|FRG1B_uc010gdr.1_Non-coding_Transcript|FRG1B_uc010ztk.1_Intron					Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA.									p.K43N(2)|p.V12V(1)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TCGCCCTGAAATCTGGCTATG	0.353												
PLCG1	5335	broad.mit.edu	37	20	39794468	39794468	+	Splice_Site	SNP	T	T	C			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr20:39794468T>C	uc002xjp.1	+	16	1920	c.1799_splice	c.e16+2	p.W600_splice	PLCG1_uc002xjo.1_Splice_Site_p.W600_splice|PLCG1_uc010zwe.1_Splice_Site_p.W226_splice|PLCG1_uc010ggf.3_5'Flank	NM_182811	NP_877963	P19174	PLCG1_HUMAN	Homo sapiens phospholipase C, gamma 1 (PLCG1), transcript variant 2, mRNA.	600	SH2 1.				activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				CTCTTTCTGGTAACACTTCCC	0.522												
TPTE	7179	broad.mit.edu	37	21	10933879	10933879	+	Missense_Mutation	SNP	C	C	T	rs149228869		TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr21:10933879C>T	uc002yip.1	-	16	1368	c.1000G>A	c.(1000-1002)Gta>Ata	p.V334I	TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Missense_Mutation_p.V316I|TPTE_uc002yir.1_Missense_Mutation_p.V296I|TPTE_uc010gkv.1_Missense_Mutation_p.V196I	NM_199261	NP_954870	P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.	334	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TGAATCGCTACGATGTTTTCA	0.313												
RRP1B	23076	broad.mit.edu	37	21	45107849	45107849	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr21:45107849G>A	uc002zdk.3	+	12	1708	c.1594G>A	c.(1594-1596)Gtc>Atc	p.V532I	RRP1B_uc002zdl.3_Missense_Mutation_p.V65I	NM_015056	NP_055871	Q14684	RRP1B_HUMAN	Homo sapiens ribosomal RNA processing 1 homolog B (S. cerevisiae) (RRP1B), mRNA.	532					rRNA processing	cytosol|nucleolus|preribosome, small subunit precursor	protein binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(1)	21				STAD - Stomach adenocarcinoma(101;0.178)		AGTTGTGCCCGTCAATGGCAG	0.647												
RGL4	266747	broad.mit.edu	37	22	24034585	24034585	+	Silent	SNP	G	G	A	rs141395325	byFrequency	TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr22:24034585G>A	uc002zxo.3	+	1	1500	c.243G>A	c.(241-243)ccG>ccA	p.P81P	GUSBP11_uc002zxh.4_Non-coding_Transcript|GUSBP11_uc002zxi.4_Non-coding_Transcript|GUSBP11_uc002zxk.4_Intron|GUSBP11_uc010gua.3_Intron|GUSBP11_uc002zxl.4_Intron|GUSBP11_uc011aiz.2_Intron|GUSBP11_uc002zxm.3_Intron|RGL4_uc002zxn.3_Silent_p.P81P|RGL4_uc002zxp.1_5'UTR|RGL4_uc002zxq.3_5'UTR			Q8IZJ4	RGDSR_HUMAN	Homo sapiens ral guanine nucleotide dissociation stimulator-like 4 (RGL4), mRNA.	81					small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle	guanyl-nucleotide exchange factor activity	p.P81Q(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(3)	15						ATCAGCCCCCGCAACGGTCAT	0.552												
MYO18B	84700	broad.mit.edu	37	22	26423542	26423542	+	Silent	SNP	G	G	A			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr22:26423542G>A	uc003abz.1	+	42	7852	c.7602G>A	c.(7600-7602)gcG>gcA	p.A2534A	MYO18B_uc003aca.1_Silent_p.A2415A|MYO18B_uc010guy.1_Silent_p.A2416A|MYO18B_uc010guz.1_Silent_p.A2414A|MYO18B_uc011aka.1_Silent_p.A1688A|MYO18B_uc011akb.1_Silent_p.A2047A|MYO18B_uc010gva.1_Silent_p.A517A|MYO18B_uc010gvb.1_Non-coding_Transcript	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	2534						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CACGACTTGCGGGTGACGGTG	0.572												
FGD5	152273	broad.mit.edu	37	3	14862054	14862054	+	Silent	SNP	T	T	C			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr3:14862054T>C	uc003bzc.3	+	0	1586	c.1476T>C	c.(1474-1476)taT>taC	p.Y492Y	FGD5_uc011avk.2_Silent_p.Y492Y	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 5 (FGD5), mRNA.	492					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						TGGCCGGCTATGTCCCAGAAA	0.612												
EFHB	151651	broad.mit.edu	37	3	19974766	19974766	+	Missense_Mutation	SNP	T	T	A			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr3:19974766T>A	uc003cbl.4	-	0	941	c.745A>T	c.(745-747)Ata>Tta	p.I249L	EFHB_uc003cbm.3_Missense_Mutation_p.I119L	NM_144715	NP_653316	Q8N7U6	EFHB_HUMAN	Homo sapiens EF-hand domain family, member B (EFHB), mRNA.	249					signal transduction	proteinaceous extracellular matrix	calcium ion binding			breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						CCAGAGTATATGGGTCTGATG	0.443												
BOC	91653	broad.mit.edu	37	3	112997000	112997000	+	Missense_Mutation	SNP	G	G	A	rs149038528		TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr3:112997000G>A	uc003dzx.3	+	9	2219	c.1598G>A	c.(1597-1599)cGc>cAc	p.R533H	BOC_uc003dzy.3_Missense_Mutation_p.R533H|BOC_uc003dzz.3_Missense_Mutation_p.R534H|BOC_uc003eab.3_Missense_Mutation_p.R234H|BOC_uc003eac.3_5'Flank	NM_033254	NP_150279	Q9BWV1	BOC_HUMAN	Homo sapiens Boc homolog (mouse) (BOC), mRNA.	533	Fibronectin type-III 1.				cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			AACCAGCACCGCCTGACCCTC	0.567												
KDR	3791	broad.mit.edu	37	4	55956221	55956221	+	Nonsense_Mutation	SNP	G	G	A			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr4:55956221G>A	uc003has.3	-	22	3396	c.3094C>T	c.(3094-3096)Cga>Tga	p.R1032*	KDR_uc003hat.1_Nonsense_Mutation_p.R1032*	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Homo sapiens kinase insert domain receptor (a type III receptor tyrosine kinase) (KDR), mRNA.	1032	Protein kinase.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity	p.R1032Q(2)|p.R1032*(2)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	AGGATATTTCGTGCCGCCAGG	0.448			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)		
UGT2B10	7365	broad.mit.edu	37	4	69870669	69870669	+	Missense_Mutation	SNP	C	C	A			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr4:69870669C>A	uc011cao.1	-	7	1486	c.1360G>T	c.(1360-1362)Gcc>Tcc	p.A454S	UGT2B10_uc011can.1_Missense_Mutation_p.A370S			P36537	UDB10_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B10 (UGT2B10), transcript variant 1, mRNA.	498					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						GCCACACAGGCCAGCAGGAAC	0.448												
PROL1	58503	broad.mit.edu	37	4	71275177	71275177	+	Missense_Mutation	SNP	G	G	T			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr4:71275177G>T	uc003hfi.3	+	2	306	c.132G>T	c.(130-132)tgG>tgT	p.W44C		NM_021225	NP_067048	Q99935	PROL1_HUMAN	Homo sapiens proline rich, lacrimal 1 (PROL1), mRNA.	44	Pro-rich.				regulation of sensory perception of pain	extracellular region	endopeptidase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	15		all_hematologic(202;0.196)				GGCCAAGATGGGTTCCACCAA	0.502												
HSD17B13	345275	broad.mit.edu	37	4	88239495	88239495	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr4:88239495G>A	uc003hqo.2	-	1	367	c.304C>T	c.(304-306)Cgc>Tgc	p.R102C	HSD17B13_uc010ikk.2_Intron	NM_178135	NP_835236	Q7Z5P4	DHB13_HUMAN	Homo sapiens hydroxysteroid (17-beta) dehydrogenase 13 (HSD17B13), transcript variant A, mRNA.	102						extracellular region	binding|oxidoreductase activity			endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	8		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.000308)		TTTAGAGAGCGATAGATCTCT	0.468												
NAIP	4671	broad.mit.edu	37	5	70307168	70307168	+	Missense_Mutation	SNP	C	C	A			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr5:70307168C>A	uc003kar.1	-	4	1320	c.602G>T	c.(601-603)gGt>gTt	p.G201V	NAIP_uc003kat.1_Intron|NAIP_uc011crs.1_Missense_Mutation_p.G201V|NAIP_uc003kas.1_Intron	NM_004536	NP_004527	Q13075	BIRC1_HUMAN	Homo sapiens NLR family, apoptosis inhibitory protein (NAIP), transcript variant 1, mRNA.	201					anti-apoptosis|apoptosis|nervous system development	basolateral plasma membrane|cytoplasm	caspase inhibitor activity|metal ion binding|nucleoside-triphosphatase activity|nucleotide binding			central_nervous_system(1)	1		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		TAAACATCCACCACAGGAAAA	0.403												
PTCD2	79810	broad.mit.edu	37	5	71616252	71616252	+	Missense_Mutation	SNP	C	C	G			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr5:71616252C>G	uc003kcb.3	+	0	53	c.43C>G	c.(43-45)Cga>Gga	p.R15G	MRPS27_uc003kca.4_5'Flank|MRPS27_uc003kbz.4_5'Flank|MRPS27_uc011cse.2_5'Flank|MRPS27_uc010iza.3_5'Flank|PTCD2_uc011csf.1_5'UTR|PTCD2_uc003kcc.3_5'UTR|PTCD2_uc011csg.2_5'UTR|PTCD2_uc011csh.2_Missense_Mutation_p.R15G|PTCD2_uc003kcd.3_Non-coding_Transcript	NM_024754	NP_079030	Q8WV60	PTCD2_HUMAN	Homo sapiens pentatricopeptide repeat domain 2 (PTCD2), mRNA.	15										breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(1)|skin(1)	11		Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.73e-53)		GCCCTCGAATCGAGTTCTCCT	0.627												
DDX41	51428	broad.mit.edu	37	5	176942773	176942773	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr5:176942773G>A	uc003mho.3	-	5	505	c.484C>T	c.(484-486)Cgc>Tgc	p.R162C	DDX41_uc003mhn.3_Missense_Mutation_p.R31C|DDX41_uc003mhp.3_Missense_Mutation_p.R31C|DDX41_uc003mhq.1_5'UTR	NM_016222	NP_057306	Q9UJV9	DDX41_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 41 (DDX41), mRNA.	162					apoptosis|multicellular organismal development	catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|zinc ion binding					all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			ttccgcacgcgctcatgtcgc	0.552												
MYLIP	29116	broad.mit.edu	37	6	16130808	16130808	+	Missense_Mutation	SNP	C	C	G			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr6:16130808C>G	uc003nbq.3	+	1	345	c.108C>G	c.(106-108)atC>atG	p.I36M	MYLIP_uc003nbr.3_Intron	NM_013262	NP_037394	Q8WY64	MYLIP_HUMAN	Homo sapiens myosin regulatory light chain interacting protein (MYLIP), mRNA.	36	FERM.				cellular component movement|nervous system development	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(50;0.0799)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.241)			GACTGGGAATCATAGAAGTTG	0.468												
MYLIP	29116	broad.mit.edu	37	6	16130886	16130886	+	Silent	SNP	C	C	T			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr6:16130886C>T	uc003nbq.3	+	1	423	c.186C>T	c.(184-186)atC>atT	p.I62I	MYLIP_uc003nbr.3_Intron	NM_013262	NP_037394	Q8WY64	MYLIP_HUMAN	Homo sapiens myosin regulatory light chain interacting protein (MYLIP), mRNA.	62	FERM.				cellular component movement|nervous system development	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(50;0.0799)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.241)			GAAACCGGATCTCCCAGCAGA	0.473												
TNXB	7148	broad.mit.edu	37	6	32012858	32012858	+	Missense_Mutation	SNP	T	T	C			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr6:32012858T>C	uc003nzl.2	-	31	11048	c.10846A>G	c.(10846-10848)Acc>Gcc	p.T3616A	TNXB_uc003nzg.1_Missense_Mutation_p.T47A|TNXB_uc003nzh.1_Missense_Mutation_p.T85A	NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	3663	Fibronectin type-III 28.				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						CTGTAGGGGGTGCTGGGCTCC	0.642												
MLN	4295	broad.mit.edu	37	6	33768891	33768891	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr6:33768891G>A	uc003off.1	-	1	121	c.50C>T	c.(49-51)gCc>gTc	p.A17V	MLN_uc003ofg.1_Missense_Mutation_p.A17V|MLN_uc011drn.1_Missense_Mutation_p.A17V	NM_002418	NP_002409	P12872	MOTI_HUMAN	Homo sapiens motilin (MLN), transcript variant 1, mRNA.	17					cell-cell signaling|G-protein coupled receptor protein signaling pathway	extracellular region|soluble fraction	hormone activity	p.A16T(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|skin(1)	6						GGCCAGCATGGCAGCTACATG	0.567												
SRPK1	6732	broad.mit.edu	37	6	35838178	35838178	+	Missense_Mutation	SNP	C	C	G			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr6:35838178C>G	uc003olj.3	-	9	995	c.871G>C	c.(871-873)Gaa>Caa	p.E291Q	SRPK1_uc003olh.3_Missense_Mutation_p.E184Q|SRPK1_uc003oli.3_Missense_Mutation_p.E184Q|SRPK1_uc011dtg.2_Missense_Mutation_p.E275Q	NM_003137	NP_003128	Q96SB4	SRPK1_HUMAN	Homo sapiens SRSF protein kinase 1 (SRPK1), transcript variant 1, mRNA.	291	Protein kinase.				cell differentiation|chromosome segregation|interspecies interaction between organisms|intracellular protein kinase cascade|mRNA processing|negative regulation of viral genome replication|positive regulation of viral genome replication|regulation of mRNA processing|RNA splicing	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(10)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21						TTCTCCATTTCCTCAATTTCC	0.438												
VPS41	27072	broad.mit.edu	37	7	38798055	38798055	+	Missense_Mutation	SNP	C	C	A			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr7:38798055C>A	uc003tgy.3	-	17	1475	c.1449G>T	c.(1447-1449)tgG>tgT	p.W483C	VPS41_uc003tgz.3_Missense_Mutation_p.W458C|VPS41_uc010kxn.3_Missense_Mutation_p.W394C	NM_014396	NP_055211	P49754	VPS41_HUMAN	Homo sapiens vacuolar protein sorting 41 homolog (S. cerevisiae) (VPS41), transcript variant 1, mRNA.	483					Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction	zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						GATCTCCAGGCCATTCTCGGA	0.353												
EGFR	1956	broad.mit.edu	37	7	55231506	55231506	+	Missense_Mutation	SNP	G	G	C			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr7:55231506G>C	uc003tqk.3	+	13	1958	c.1712G>C	c.(1711-1713)tGc>tCc	p.C571S	EGFR_uc003tqi.3_Missense_Mutation_p.C571S|EGFR_uc003tqj.3_Missense_Mutation_p.C571S|EGFR_uc022adm.1_Missense_Mutation_p.C571S|EGFR_uc010kzg.2_Missense_Mutation_p.C526S|EGFR_uc022adn.1_Missense_Mutation_p.C526S|EGFR_uc011kco.2_Missense_Mutation_p.C518S|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_Intron|EGFR_uc003tqn.3_5'Flank	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	571					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)	AACATCACCTGCACAGGACGG	0.557		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)		
ASNS	440	broad.mit.edu	37	7	97483890	97483890	+	Splice_Site	SNP	A	A	G			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr7:97483890A>G	uc003uot.4	-	10	1744	c.1238_splice	c.e10+1	p.G413_splice	ASNS_uc011kin.2_Splice_Site_p.G330_splice|ASNS_uc011kio.2_Splice_Site_p.G392_splice|ASNS_uc003uou.4_Splice_Site_p.G413_splice|ASNS_uc003uov.4_Splice_Site_p.G413_splice|ASNS_uc003uox.4_Splice_Site_p.G330_splice	NM_133436	NP_001171548	P08243	ASNS_HUMAN	Homo sapiens asparagine synthetase (glutamine-hydrolyzing) (ASNS), transcript variant 1, mRNA.	413	Asparagine synthetase.				cellular response to glucose starvation|glutamine metabolic process|negative regulation of apoptosis|positive regulation of mitotic cell cycle	cytosol|soluble fraction	asparagine synthase (glutamine-hydrolyzing) activity|ATP binding			ovary(1)	1	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)				Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	TAAAAATATTACCCATGGGCA	0.383												
OR2A25	392138	broad.mit.edu	37	7	143771890	143771890	+	Missense_Mutation	SNP	T	T	C			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr7:143771890T>C	uc011ktx.2	+	0	578	c.578T>C	c.(577-579)aTt>aCt	p.I193T		NM_001004488	NP_001004488	A4D2G3	O2A25_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 25 (OR2A25), mRNA.	193					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					GATACCCACATTAATGAGGTA	0.433												
IKBKB	3551	broad.mit.edu	37	8	42163910	42163910	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr8:42163910G>A	uc003xow.2	+	6	713	c.527G>A	c.(526-528)gGc>gAc	p.G176D	IKBKB_uc003xov.3_Missense_Mutation_p.G176D|IKBKB_uc010lxh.2_Missense_Mutation_p.G71D|IKBKB_uc011lco.2_Non-coding_Transcript|IKBKB_uc003xox.2_5'UTR|IKBKB_uc010lxj.2_Intron|IKBKB_uc011lcp.2_Non-coding_Transcript|IKBKB_uc011lcq.2_Missense_Mutation_p.G174D|IKBKB_uc010lxi.2_Non-coding_Transcript|IKBKB_uc011lcr.2_Missense_Mutation_p.G117D	NM_001556	NP_001547	O14920	IKKB_HUMAN	Homo sapiens inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta (IKBKB), transcript variant 1, mRNA.	176	Protein kinase.				anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft	ATP binding|identical protein binding|IkappaB kinase activity			breast(4)|lung(1)|ovary(2)|skin(1)	8	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Arsenic trioxide(DB01169)|Auranofin(DB00995)	CTGGATCAGGGCAGTCTTTGC	0.478												
DCAF4L2	138009	broad.mit.edu	37	8	88886131	88886131	+	Silent	SNP	G	G	C			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr8:88886131G>C	uc003ydz.3	-	0	166	c.69C>G	c.(67-69)ctC>ctG	p.L23L		NM_152418	NP_689631	Q8NA75	DC4L2_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 4-like 2 (DCAF4L2), mRNA.	23										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						AAGGTGCATTGAGTCCCACTC	0.532												
RIMS2	9699	broad.mit.edu	37	8	105001597	105001597	+	Nonsense_Mutation	SNP	C	C	T			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr8:105001597C>T	uc003yls.3	+	14	2567	c.2326C>T	c.(2326-2328)Cga>Tga	p.R776*	RIMS2_uc003ylp.3_Nonsense_Mutation_p.R998*|RIMS2_uc003ylw.2_Nonsense_Mutation_p.R790*|RIMS2_uc003ylq.3_Nonsense_Mutation_p.R790*|RIMS2_uc003ylr.3_Nonsense_Mutation_p.R837*	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 2, mRNA.	1060					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	p.R776*(1)|p.R776Q(1)		NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TACAATTAGCCGAATGGACAG	0.368										HNSCC(12;0.0054)		
COLEC10	10584	broad.mit.edu	37	8	120101985	120101985	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr8:120101985C>T	uc003yoo.3	+	1	312	c.215C>T	c.(214-216)cCg>cTg	p.P72L		NM_006438	NP_006429	Q9Y6Z7	COL10_HUMAN	Homo sapiens collectin sub-family member 10 (C-type lectin) (COLEC10), mRNA.	72	Collagen-like.					collagen|cytoplasm	mannose binding			endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21	all_cancers(13;4.13e-26)|Lung NSC(37;1.36e-07)|Ovarian(258;0.018)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00113)			CGCATGGGGCCGAAAGGTAAC	0.413												
SHB	6461	broad.mit.edu	37	9	37919970	37919970	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr9:37919970C>T	uc004aax.3	-	5	1946	c.1378G>A	c.(1378-1380)Gcc>Acc	p.A460T		NM_003028	NP_003019	Q15464	SHB_HUMAN	Homo sapiens Src homology 2 domain containing adaptor protein B (SHB), mRNA.	460	SH2.				angiogenesis|apoptosis|cell differentiation|signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity			central_nervous_system(2)|endometrium(4)|lung(1)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)	11		all_epithelial(88;0.122)		GBM - Glioblastoma multiforme(29;3.27e-05)|Lung(182;0.0658)		TTGGTTTTGGCCAGTTTCATG	0.502												
FAM75A3	727830	broad.mit.edu	37	9	40702866	40702866	+	Missense_Mutation	SNP	A	A	T			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr9:40702866A>T	uc010mmj.3	+	3	552	c.523A>T	c.(523-525)Acc>Tcc	p.T175S		NM_001083124	NP_001076593	Q5VYP0	F75A3_HUMAN	Homo sapiens family with sequence similarity 75, member A3 (FAM75A3), mRNA.	175	Pro-rich.					integral to membrane				kidney(1)|large_intestine(2)|lung(18)|ovary(3)|prostate(1)|skin(1)	26				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		AGGCCCAATGACCACCTCAGT	0.592												
TUBBP5	643224	broad.mit.edu	37	9	141070064	141070064	+	Translation_Start_Site	SNP	G	G	A			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr9:141070064G>A	uc010ncq.3	+	3	1144	c.304G>A	c.(304-306)Gtg>Atg	p.V102M						Homo sapiens tubulin, beta pseudogene 5 (TUBBP5), non-coding RNA.																		TGGCAGGTACGTGCCCCGCGC	0.716