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
IL22RA1	58985	broad.mit.edu	37	1	24465095	24465095	+	Silent	SNP	C	C	T			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr1:24465095C>T	uc001biq.2	-	1	356	c.153G>A	c.(151-153)acG>acA	p.T51T	IL22RA1_uc010oeg.1_5'Flank|IL22RA1_uc009vrb.2_5'UTR|IL22RA1_uc010oeh.2_Silent_p.T51T	NM_021258	NP_067081	Q8N6P7	I22R1_HUMAN	Homo sapiens interleukin 22 receptor, alpha 1 (IL22RA1), mRNA.	51	Fibronectin type-III 1.					integral to membrane	interferon receptor activity			breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000992)|all_lung(284;0.00138)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-24)|Colorectal(126;6.43e-08)|COAD - Colon adenocarcinoma(152;3.51e-06)|GBM - Glioblastoma multiforme(114;5.06e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00911)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.148)		TGCTGTAGACCGTGTCTGGGG	0.567												
PTAFR	5724	broad.mit.edu	37	1	28477494	28477494	+	Silent	SNP	G	G	A			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr1:28477494G>A	uc009vte.3	-	2	374	c.39C>T	c.(37-39)ttC>ttT	p.F13F	PTAFR_uc021ojz.1_Silent_p.F13F|PTAFR_uc001bpl.3_Silent_p.F13F|PTAFR_uc001bpm.4_Silent_p.F13F|PTAFR_uc021oka.1_Silent_p.F13F	NM_001164721	NP_001158195	P25105	PTAFR_HUMAN	Homo sapiens platelet-activating factor receptor (PTAFR), transcript variant 1, mRNA.	13					chemotaxis|inflammatory response|interferon-gamma-mediated signaling pathway|phosphatidylinositol-mediated signaling	integral to plasma membrane|nucleus	phospholipid binding|platelet activating factor receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|stomach(1)	15		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00715)|all_lung(284;0.00732)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.215)|OV - Ovarian serous cystadenocarcinoma(117;6e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|STAD - Stomach adenocarcinoma(196;0.00678)|READ - Rectum adenocarcinoma(331;0.0649)		GAGTGTATCGGAACTCAGAGT	0.527												
GLIS1	148979	broad.mit.edu	37	1	53995480	53995480	+	Missense_Mutation	SNP	C	C	T			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr1:53995480C>T	uc001cvr.1	-	3	1508	c.941G>A	c.(940-942)cGc>cAc	p.R314H		NM_147193	NP_671726	Q8NBF1	GLIS1_HUMAN	Homo sapiens GLIS family zinc finger 1 (GLIS1), mRNA.	314					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						TAGGTGGGTGCGCTGGTGCTT	0.657												
ADAM30	11085	broad.mit.edu	37	1	120437661	120437661	+	Missense_Mutation	SNP	C	C	A			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr1:120437661C>A	uc001eij.3	-	0	1487	c.1299G>T	c.(1297-1299)ttG>ttT	p.L433F		NM_021794	NP_068566	Q9UKF2	ADA30_HUMAN	Homo sapiens ADAM metallopeptidase domain 30 (ADAM30), mRNA.	433	Disintegrin.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		CACCTGGTTGCAACTTACAAT	0.453												
SEMA4A	64218	broad.mit.edu	37	1	156126258	156126258	+	Missense_Mutation	SNP	G	G	C			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr1:156126258G>C	uc001fnl.3	+	2	372	c.193G>C	c.(193-195)Gac>Cac	p.D65H	SEMA4A_uc009wrq.3_Missense_Mutation_p.D65H|SEMA4A_uc001fnm.3_Missense_Mutation_p.D65H|SEMA4A_uc001fnn.3_5'UTR|SEMA4A_uc001fno.3_Missense_Mutation_p.D65H	NM_001193301	NP_071762	Q9H3S1	SEM4A_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A (SEMA4A), transcript variant 3, mRNA.	65	Sema.				axon guidance	integral to membrane|plasma membrane	receptor activity			breast(1)|ovary(2)|skin(2)	5	Hepatocellular(266;0.158)					CCAGGATTTTGACACTCTGCT	0.542												
ILDR2	387597	broad.mit.edu	37	1	166888604	166888604	+	Silent	SNP	G	G	A			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr1:166888604G>A	uc001gdx.2	-	9	1964	c.1908C>T	c.(1906-1908)tcC>tcT	p.S636S		NM_199351	NP_955383	Q71H61	ILDR2_HUMAN	Homo sapiens immunoglobulin-like domain containing receptor 2 (ILDR2), mRNA.	636						integral to membrane				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						AGACCACAAGGGACATCCTGG	0.438												
PTPRC	5788	broad.mit.edu	37	1	198676014	198676014	+	Silent	SNP	G	G	A	rs137909392	byFrequency	TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr1:198676014G>A	uc001gur.1	+	8	1011	c.831G>A	c.(829-831)gcG>gcA	p.A277A	PTPRC_uc001gut.1_Silent_p.A116A|PTPRC_uc009wzf.1_Silent_p.A165A|PTPRC_uc021pgy.1_Silent_p.A231A|PTPRC_uc010ppg.1_Silent_p.A213A	NM_002838	NP_002829	P08575	PTPRC_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, C (PTPRC), transcript variant 1, mRNA.	277					axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						GTAAAAATGCGTCTGTTTCCA	0.299												
LYST	1130	broad.mit.edu	37	1	235938388	235938388	+	Splice_Site	SNP	T	T	A			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr1:235938388T>A	uc001hxj.2	-	18	5636	c.5461_splice	c.e18-1	p.V1821_splice	LYST_uc009xgb.1_Splice_Site|LYST_uc010pxs.1_Splice_Site	NM_000081	NP_000072	Q99698	LYST_HUMAN	Homo sapiens lysosomal trafficking regulator (LYST), mRNA.	1821					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TTCAACAACCTAAAAAAAAAA	0.313												
OR13G1	441933	broad.mit.edu	37	1	247835982	247835982	+	Missense_Mutation	SNP	A	A	C			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr1:247835982A>C	uc001idi.1	-	0	362	c.362T>G	c.(361-363)gTg>gGg	p.V121G		NM_001005487	NP_001005487	Q8NGZ3	O13G1_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily G, member 1 (OR13G1), mRNA.	121					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)			ACAAATGGCCACATAGCGGTC	0.478												
PHRF1	57661	broad.mit.edu	37	11	607162	607162	+	Missense_Mutation	SNP	C	C	A			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr11:607162C>A	uc001lqe.3	+	13	1837	c.1706C>A	c.(1705-1707)cCg>cAg	p.P569Q	PHRF1_uc010qwc.2_Missense_Mutation_p.P568Q|PHRF1_uc010qwd.2_Missense_Mutation_p.P567Q|PHRF1_uc010qwe.2_Missense_Mutation_p.P565Q|PHRF1_uc009ybz.1_Missense_Mutation_p.P359Q|PHRF1_uc009yca.2_Non-coding_Transcript	NM_020901	NP_065952	Q9P1Y6	PHRF1_HUMAN	Homo sapiens PHD and ring finger domains 1 (PHRF1), mRNA.	569							RNA polymerase binding|zinc ion binding			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						TCCGGGAGCCCGGCCCAAGGC	0.662												
SLC3A2	6520	broad.mit.edu	37	11	62623803	62623803	+	Missense_Mutation	SNP	G	G	T			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr11:62623803G>T	uc001nwd.3	+	0	320	c.62G>T	c.(61-63)gGc>gTc	p.G21V	SLC3A2_uc001nwc.3_Missense_Mutation_p.G21V|SLC3A2_uc001nwf.3_Missense_Mutation_p.G21V|SNHG1_uc001nvr.3_5'Flank|SNHG1_uc001nvs.3_5'Flank|SNHG1_uc001nvt.3_5'Flank|SNHG1_uc001nvu.3_5'Flank|SNHG1_uc009yoj.1_5'Flank|SNORD30_uc001nvw.1_5'Flank|SNHG1_uc001nvx.2_5'Flank|SNORD22_uc021qkn.1_5'Flank|SNORD28_uc001nvy.1_5'Flank|SNHG1_uc001nvz.2_5'Flank|SNHG1_uc009yok.1_5'Flank|SNHG1_uc001nwa.4_5'Flank	NM_002394	NP_001013269	P08195	4F2_HUMAN	Homo sapiens solute carrier family 3 (activators of dibasic and neutral amino acid transport), member 2 (SLC3A2), transcript variant 3, mRNA.	21					blood coagulation|carbohydrate metabolic process|cell growth|cellular nitrogen compound metabolic process|leucine import|leukocyte migration|tryptophan transport	apical plasma membrane|cell surface|integral to membrane|melanosome	calcium:sodium antiporter activity|catalytic activity|cation binding|neutral amino acid transmembrane transporter activity|protein binding	p.G21V(2)		endometrium(1)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)	22						CAGTTGCCTGGCTCACATTCG	0.647												
P2RY2	5029	broad.mit.edu	37	11	72945627	72945627	+	Silent	SNP	C	C	T			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr11:72945627C>T	uc021qna.1	+	0	423	c.423C>T	c.(421-423)tcC>tcT	p.S141S	P2RY2_uc001otk.3_Silent_p.S141S|P2RY2_uc001otj.3_Silent_p.S141S|P2RY2_uc001otl.3_Silent_p.S141S	NM_176072	NP_788086	P41231	P2RY2_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 2 (P2RY2), transcript variant 1, mRNA.	141					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25					Suramin(DB04786)	CTCTGCGCTCCCTGCGCTGGG	0.662												
SNX19	399979	broad.mit.edu	37	11	130781567	130781567	+	Missense_Mutation	SNP	G	G	T			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr11:130781567G>T	uc001qgk.4	-	1	2322	c.1774C>A	c.(1774-1776)Cgt>Agt	p.R592S	SNX19_uc010sce.2_5'UTR|SNX19_uc010scf.2_Missense_Mutation_p.R35S|SNX19_uc010scg.2_5'UTR|SNX19_uc001qgl.3_Missense_Mutation_p.R592S|SNX19_uc009zcx.1_Non-coding_Transcript	NM_014758	NP_055573	Q92543	SNX19_HUMAN	Homo sapiens sorting nexin 19 (SNX19), mRNA.	592	PX.				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding	p.R592S(2)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		TCCTCCAGACGGGTCTGCAGA	0.557												
WNT5B	81029	broad.mit.edu	37	12	1749108	1749108	+	Missense_Mutation	SNP	T	T	C			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr12:1749108T>C	uc009zdq.3	+	3	829	c.587T>C	c.(586-588)cTc>cCc	p.L196P	WNT5B_uc001qjj.3_Missense_Mutation_p.L196P|WNT5B_uc001qjk.3_Missense_Mutation_p.L196P|WNT5B_uc001qjl.3_Missense_Mutation_p.L196P	NM_032642	NP_116031	Q9H1J7	WNT5B_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 5B (WNT5B), transcript variant 1, mRNA.	196					angiogenesis|anterior/posterior pattern formation|cell migration involved in gastrulation|cellular response to retinoic acid|chondrocyte differentiation|convergent extension involved in axis elongation|convergent extension involved in gastrulation|dorsal/ventral axis specification|endocrine pancreas development|fat cell differentiation|lens fiber cell development|negative regulation of canonical Wnt receptor signaling pathway|neuron differentiation|positive regulation of cell migration|positive regulation of fat cell differentiation|respiratory system development|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled-2 binding			skin(1)	1	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00109)			GGCCGGGTGCTCATGAACCTG	0.632												
FGD4	121512	broad.mit.edu	37	12	32791721	32791722	+	Frame_Shift_Ins	INS	-	-	C			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr12:32791721_32791722insC	uc010ske.2	+	15	2455_2456	c.2371_2372insC	c.(2371-2373)gccfs	p.A791fs	FGD4_uc001rlc.3_Frame_Shift_Ins_p.A764fs|FGD4_uc001rky.3_Frame_Shift_Ins_p.A431fs|FGD4_uc001rkz.3_Frame_Shift_Ins_p.A679fs|FGD4_uc001rla.3_Frame_Shift_Ins_p.A335fs|FGD4_uc001rlb.1_Non-coding_Transcript	NM_139241	NP_640334	Q96M96	FGD4_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 4 (FGD4), mRNA.	679					actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|filopodium|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	p.A679V(1)		breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)					CATGTATGGTGCCCCCCAGGTA	0.505												
OR8S1	341568	broad.mit.edu	37	12	48921845	48921845	+	Missense_Mutation	SNP	G	G	A			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr12:48921845G>A	uc010slu.2	+	1	1039	c.1039G>A	c.(1039-1041)Gca>Aca	p.A347T		NM_001005203	NP_001005203	Q8NH09	OR8S1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily S, member 1 (OR8S1), mRNA.	347					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4)	22						AGGGGCCTGCGCATGCTCCGC	0.662												
SCYL2	55681	broad.mit.edu	37	12	100717360	100717360	+	Missense_Mutation	SNP	A	A	C			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr12:100717360A>C	uc001thn.3	+	10	1503	c.1453A>C	c.(1453-1455)Aaa>Caa	p.K485Q	SCYL2_uc009ztw.1_Missense_Mutation_p.K312Q|SCYL2_uc001thm.1_Missense_Mutation_p.K485Q	NM_017988	NP_060458	Q6P3W7	SCYL2_HUMAN	Homo sapiens SCY1-like 2 (S. cerevisiae) (SCYL2), mRNA.	485					endosome to lysosome transport|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of clathrin-mediated endocytosis|positive regulation of receptor internalization	clathrin-coated vesicle|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|protein kinase activity|receptor binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1)	41						CCCATCCATGAAAAACGCTTT	0.318												
ANO4	121601	broad.mit.edu	37	12	101520784	101520784	+	Missense_Mutation	SNP	G	G	A	rs143188971	byFrequency	TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr12:101520784G>A	uc010svm.1	+	26	3376	c.2804G>A	c.(2803-2805)cGt>cAt	p.R935H	ANO4_uc001thw.2_Missense_Mutation_p.R900H|ANO4_uc001thx.2_Missense_Mutation_p.R935H|ANO4_uc001thy.2_Missense_Mutation_p.R455H	NM_178826	NP_849148	Q32M45	ANO4_HUMAN	Homo sapiens anoctamin 4 (ANO4), mRNA.	935						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						GAACTGGAACGTCTCCAGAAG	0.483										HNSCC(74;0.22)		
RYR3	6263	broad.mit.edu	37	15	33916210	33916210	+	Missense_Mutation	SNP	G	G	A			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr15:33916210G>A	uc001zhi.3	+	19	2630	c.2560G>A	c.(2560-2562)Gta>Ata	p.V854I	RYR3_uc010bar.3_Missense_Mutation_p.V854I	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	854	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CCCATGCCCCGTAGACACCAG	0.433												
ACAN	176	broad.mit.edu	37	15	89389067	89389067	+	Silent	SNP	C	C	T			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr15:89389067C>T	uc010upo.1	+	6	1757	c.1383C>T	c.(1381-1383)ctC>ctT	p.L461L	ACAN_uc002bmx.3_Silent_p.L461L|ACAN_uc010upp.1_Silent_p.L461L|ACAN_uc002bna.2_Non-coding_Transcript	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.	461					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GTGAGGACCTCGTCGTGCAGG	0.652												
MVP	9961	broad.mit.edu	37	16	29858658	29858658	+	Missense_Mutation	SNP	A	A	G			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr16:29858658A>G	uc002dui.3	+	13	2558	c.2406A>G	c.(2404-2406)atA>atG	p.I802M	BOLA2_uc010bzb.1_Intron|MVP_uc002duj.3_Missense_Mutation_p.I802M|MVP_uc010vea.2_Missense_Mutation_p.I396M	NM_005115	NP_059447	Q14764	MVP_HUMAN	Homo sapiens major vault protein (MVP), transcript variant 2, mRNA.	802					mRNA transport|protein transport|response to drug|transmembrane transport	cytoplasm|nuclear pore|ribonucleoprotein complex	protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1)	27						CAGAGGCCATAGGCCCCAGCA	0.582												
ATP6V0D1	9114	broad.mit.edu	37	16	67477041	67477041	+	Silent	SNP	G	G	A			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr16:67477041G>A	uc010vjo.1	-	4	745	c.645C>T	c.(643-645)gaC>gaT	p.D215D	ATP6V0D1_uc002ete.1_Silent_p.D174D|ATP6V0D1_uc010vjn.1_Silent_p.D97D	NM_004691	NP_004682	P61421	VA0D1_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d1 (ATP6V0D1), mRNA.	174					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex				large_intestine(3)|lung(3)|urinary_tract(2)	8		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0439)|Epithelial(162;0.101)		TGTTCATCTCGTCAAGGTCCT	0.567												
HYDIN	54768	broad.mit.edu	37	16	70908762	70908762	+	Missense_Mutation	SNP	C	C	T			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr16:70908762C>T	uc002ezr.3	-	62	10766	c.10615G>A	c.(10615-10617)Gcg>Acg	p.A3539T		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	3540										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TAGATATACGCGGTGGTGGGC	0.507												
RABEP1	9135	broad.mit.edu	37	17	5235422	5235422	+	Silent	SNP	T	T	G			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr17:5235422T>G	uc002gbm.4	+	2	566	c.342T>G	c.(340-342)gtT>gtG	p.V114V	RABEP1_uc010clc.1_Silent_p.V114V|RABEP1_uc010cld.1_Silent_p.V71V|RABEP1_uc010vsw.1_Silent_p.V71V|RABEP1_uc002gbl.4_Silent_p.V114V|RABEP1_uc002gbj.3_Silent_p.V114V|RABEP1_uc002gbk.2_Silent_p.V114V	NM_004703	NP_004694	Q15276	RABE1_HUMAN	Homo sapiens rabaptin, RAB GTPase binding effector protein 1 (RABEP1), transcript variant 1, mRNA.	114					apoptosis|cellular membrane fusion|endocytosis|protein transport	centrosome|early endosome|endocytic vesicle|recycling endosome	growth factor activity|GTPase activator activity|protein homodimerization activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	8						GAGAAGAAGTTGCTTCACTTC	0.378												
MYH4	4622	broad.mit.edu	37	17	10358985	10358985	+	Missense_Mutation	SNP	C	C	A			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr17:10358985C>A	uc002gmn.3	-	18	2231	c.2120G>T	c.(2119-2121)cGc>cTc	p.R707L	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	707	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						CCTGCAGATGCGGATGCCTTC	0.468												
MYH1	4619	broad.mit.edu	37	17	10408543	10408543	+	Missense_Mutation	SNP	C	C	T			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr17:10408543C>T	uc002gmo.3	-	20	2466	c.2372G>A	c.(2371-2373)cGa>cAa	p.R791Q	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	791	IQ.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						GGCCTGGGTTCGGGTAATCAG	0.458												
USP22	23326	broad.mit.edu	37	17	20931977	20931977	+	Missense_Mutation	SNP	C	C	T			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr17:20931977C>T	uc002gym.4	-	1	386	c.182G>A	c.(181-183)tGt>tAt	p.C61Y	USP22_uc002gyn.4_Missense_Mutation_p.C49Y|USP22_uc002gyl.4_5'UTR	NM_015276	NP_056091	Q9UPT9	UBP22_HUMAN	Homo sapiens ubiquitin specific peptidase 22 (USP22), mRNA.	61					cell cycle|embryo development|histone deubiquitination|histone H4 acetylation|histone ubiquitination|positive regulation of mitotic cell cycle|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	SAGA complex	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	15						ATGGCAGATACAGGACTTGGC	0.517												
C17orf70	80233	broad.mit.edu	37	17	79517665	79517665	+	Missense_Mutation	SNP	T	T	C			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr17:79517665T>C	uc002kaq.3	-	2	928	c.855A>G	c.(853-855)atA>atG	p.I285M	C17orf70_uc002kao.1_5'Flank|C17orf70_uc010wuq.1_Non-coding_Transcript|C17orf70_uc002kap.3_Missense_Mutation_p.I134M	NM_025161	NP_079437	Q0VG06	FP100_HUMAN	Homo sapiens chromosome 17 open reading frame 70 (C17orf70), transcript variant 2, mRNA.	285					DNA repair	cytoplasm|intermediate filament cytoskeleton|nucleoplasm	DNA binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	19	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			TCAAGGCCCCTATGAAGATGA	0.577												
LAMA1	284217	broad.mit.edu	37	18	7034562	7034562	+	Missense_Mutation	SNP	C	C	T			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr18:7034562C>T	uc002knm.3	-	13	2061	c.1967G>A	c.(1966-1968)cGt>cAt	p.R656H	LAMA1_uc010wzj.2_Missense_Mutation_p.R132H	NM_005559	NP_005550	P25391	LAMA1_HUMAN	Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	656	Laminin IV type A 1.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	p.R656H(2)		NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CAGCTGGTCACGATCAATCTG	0.423												
ALPK2	115701	broad.mit.edu	37	18	56202092	56202092	+	Frame_Shift_Del	DEL	T	T	-			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr18:56202092delT	uc002lhj.4	-	4	5541	c.5327delA	c.(5326-5328)aagfs	p.K1776fs	ALPK2_uc002lhk.1_Frame_Shift_Del_p.K1107fs	NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	Homo sapiens alpha-kinase 2 (ALPK2), mRNA.	1776							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						GCAAGATGGCTTTTTTGGGTC	0.408												
SERPINB7	8710	broad.mit.edu	37	18	61465969	61465969	+	Missense_Mutation	SNP	A	A	G			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr18:61465969A>G	uc002ljl.3	+	5	682	c.586A>G	c.(586-588)Aaa>Gaa	p.K196E	SERPINB7_uc002ljm.3_Missense_Mutation_p.K196E|SERPINB7_uc010xet.2_Missense_Mutation_p.K179E|SERPINB7_uc010dqg.3_Missense_Mutation_p.K196E	NM_001040147	NP_003775	O75635	SPB7_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 7 (SERPINB7), transcript variant 2, mRNA.	196					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				TTGCCATTTCAAATCTCCCAA	0.403												
PALM	5064	broad.mit.edu	37	19	746493	746493	+	Silent	SNP	C	C	T			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr19:746493C>T	uc002lpm.1	+	8	1037	c.843C>T	c.(841-843)ggC>ggT	p.G281G	PALM_uc002lpn.1_Silent_p.G237G|PALM_uc010xfu.1_Silent_p.G146G	NM_002579	NP_002570	O75781	PALM_HUMAN	Homo sapiens paralemmin (PALM), transcript variant 1, mRNA.	281					cellular component movement|negative regulation of adenylate cyclase activity|negative regulation of dopamine receptor signaling pathway|positive regulation of filopodium assembly|regulation of cell shape	cytoplasmic membrane-bounded vesicle|filopodium membrane|integral to plasma membrane				endometrium(2)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)|Lung(535;0.201)		CACAGCCAGGCGAGGCCACGT	0.726												
CD97	976	broad.mit.edu	37	19	14513618	14513618	+	Missense_Mutation	SNP	G	G	A			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr19:14513618G>A	uc002myl.3	+	11	1773	c.1393G>A	c.(1393-1395)Gcc>Acc	p.A465T	CD97_uc002mym.3_Missense_Mutation_p.A416T|CD97_uc002myn.3_Missense_Mutation_p.A372T	NM_078481	NP_510966	P48960	CD97_HUMAN	Homo sapiens CD97 molecule (CD97), transcript variant 1, mRNA.	465					cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway	extracellular space|integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						CATCCTTTTCGCCTTCTCCCA	0.567												
FAM32A	26017	broad.mit.edu	37	19	16301334	16301334	+	Missense_Mutation	SNP	A	A	G			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr19:16301334A>G	uc002ndt.3	+	2	239	c.220A>G	c.(220-222)Atg>Gtg	p.M74V		NM_014077	NP_054796	Q9Y421	FA32A_HUMAN	Homo sapiens family with sequence similarity 32, member A (FAM32A), mRNA.	74	Lys-rich.					nucleolus				lung(1)	1						TCTCCAGCAAATGGAAAGGAT	0.562												
CD22	933	broad.mit.edu	37	19	35832290	35832290	+	Missense_Mutation	SNP	G	G	A			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr19:35832290G>A	uc010edt.3	+	7	1636	c.1552G>A	c.(1552-1554)Gag>Aag	p.E518K	CD22_uc010edu.3_Missense_Mutation_p.E430K|CD22_uc010edv.3_Missense_Mutation_p.E518K|CD22_uc002nzb.4_Missense_Mutation_p.E341K|CD22_uc010xst.2_Missense_Mutation_p.E346K|CD22_uc010edx.3_Non-coding_Transcript	NM_001771	NP_001762	P20273	CD22_HUMAN	Homo sapiens CD22 molecule (CD22), transcript variant 1, mRNA.	518	Ig-like C2-type 5.				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)	GCCCCTTTCCGAGATTCACTC	0.572												
HKR1	284459	broad.mit.edu	37	19	37853831	37853831	+	Silent	SNP	G	G	A			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr19:37853831G>A	uc002ogb.3	+	5	1403	c.1134G>A	c.(1132-1134)gcG>gcA	p.A378A	HKR1_uc002ofx.3_Silent_p.A94A|HKR1_uc002ofy.3_Silent_p.A94A|HKR1_uc002oga.3_Silent_p.A360A|HKR1_uc010xto.2_Silent_p.A360A|HKR1_uc002ogc.3_Silent_p.A359A|HKR1_uc010xtp.2_Silent_p.A317A|HKR1_uc002ogd.3_Silent_p.A317A	NM_181786	NP_861451	P10072	HKR1_HUMAN	Homo sapiens HKR1, GLI-Kruppel zinc finger family member (HKR1), mRNA.	378					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ACCAGAGGGCGCACACTGGGG	0.532												
ACPT	93650	broad.mit.edu	37	19	51295361	51295361	+	Missense_Mutation	SNP	G	G	A			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr19:51295361G>A	uc002pta.1	+	4	482	c.482G>A	c.(481-483)cGa>cAa	p.R161Q		NM_033068	NP_149059	Q9BZG2	PPAT_HUMAN	Homo sapiens acid phosphatase, testicular (ACPT), mRNA.	161						integral to membrane	acid phosphatase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(3)	11		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		AGCTGTCCCCGATACCACGAG	0.692												
BIRC8	112401	broad.mit.edu	37	19	53794413	53794413	+	Translation_Start_Site	SNP	G	G	A			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr19:53794413G>A	uc002qbk.3	-	0						NM_033341	NP_203127	Q96P09	BIRC8_HUMAN	Homo sapiens baculoviral IAP repeat containing 8 (BIRC8), mRNA.						apoptosis		zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|urinary_tract(1)	19				GBM - Glioblastoma multiforme(134;0.00304)		CTTGTCCACCGTCTCGCGCCA	0.527												
LILRB2	10288	broad.mit.edu	37	19	54784355	54784355	+	Translation_Start_Site	SNP	G	G	A			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr19:54784355G>A	uc002qfb.3	-	1					LILRB3_uc002qew.2_Intron|LILRB2_uc010eri.3_5'UTR|LILRB2_uc010erj.3_Non-coding_Transcript|LILRB2_uc002qfc.3_5'UTR|LILRB2_uc010yet.2_5'UTR|LILRB2_uc010yeu.1_Non-coding_Transcript|MIR4752_uc021vbj.1_5'Flank	NM_005874	NP_005865	Q8N423	LIRB2_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2 (LILRB2), transcript variant 1, mRNA.						cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGGTCATGGCGTCTCCTCCCA	0.592												
HSPBP1	23640	broad.mit.edu	37	19	55776732	55776732	+	Missense_Mutation	SNP	C	C	T			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr19:55776732C>T	uc002qkd.3	-	7	1253	c.919G>A	c.(919-921)Gtg>Atg	p.V307M	HSPBP1_uc002qjx.3_Missense_Mutation_p.V353M|HSPBP1_uc002qkc.3_Missense_Mutation_p.V307M|X05128_uc002qke.3_5'Flank	NM_001130106	NP_036399	Q9NZL4	HPBP1_HUMAN	Homo sapiens HSPA (heat shock 70kDa) binding protein, cytoplasmic cochaperone 1 (HSPBP1), transcript variant 2, mRNA.	310					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein folding		enzyme inhibitor activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|urinary_tract(1)	8			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		CACTCGCGCACACCCTGCGGA	0.657												
HSPBP1	23640	broad.mit.edu	37	19	55777302	55777302	+	Missense_Mutation	SNP	C	C	T			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr19:55777302C>T	uc002qkd.3	-	6	1179	c.845G>A	c.(844-846)cGg>cAg	p.R282Q	HSPBP1_uc002qjx.3_Missense_Mutation_p.R328Q|HSPBP1_uc002qkc.3_Missense_Mutation_p.R282Q|X05128_uc002qke.3_5'Flank	NM_001130106	NP_036399	Q9NZL4	HPBP1_HUMAN	Homo sapiens HSPA (heat shock 70kDa) binding protein, cytoplasmic cochaperone 1 (HSPBP1), transcript variant 2, mRNA.	285					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein folding		enzyme inhibitor activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|urinary_tract(1)	8			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		GTGCTCTGTCCGCACCAGGGC	0.687												
ZSCAN1	284312	broad.mit.edu	37	19	58564905	58564905	+	Missense_Mutation	SNP	C	C	T			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr19:58564905C>T	uc002qrc.1	+	5	960	c.713C>T	c.(712-714)cCc>cTc	p.P238L		NM_182572	NP_872378	Q8NBB4	ZSCA1_HUMAN	Homo sapiens zinc finger and SCAN domain containing 1 (ZSCAN1), mRNA.	238					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		ATCTCGAGCCCCAAGGGTCCA	0.617												
ITSN2	50618	broad.mit.edu	37	2	24435600	24435600	+	Silent	SNP	C	C	T	rs146758206	byFrequency	TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr2:24435600C>T	uc002rfe.2	-	32	4266	c.4008G>A	c.(4006-4008)ccG>ccA	p.P1336P	ITSN2_uc002rff.2_Silent_p.P1309P	NM_006277	NP_006268	Q9NZM3	ITSN2_HUMAN	Homo sapiens intersectin 2 (ITSN2), transcript variant 1, mRNA.	1336	DH.				endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	p.P1335P(2)|p.R1336R(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTTTACACCGCGGGTCAGATG	0.542												
RPL23AP32	56969	broad.mit.edu	37	2	54756736	54756737	+	Missense_Mutation	DNP	TT	TT	CC			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr2:54756736_54756737TT>CC	uc010yot.1	+	0	378_379	c.254_255TT>CC	c.(253-255)ttt>tCC	p.F85S	SPTBN1_uc002rxu.3_Intron|SPTBN1_uc002rxv.1_Intron					Homo sapiens ribosomal protein L23a pseudogene 32 (RPL23AP32), non-coding RNA.																		ACCACTGAGTTTGCCATGAAGA	0.480												
ANKRD36C	400986	broad.mit.edu	37	2	96587529	96587529	+	Splice_Site	SNP	C	C	G			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr2:96587529C>G	uc002sva.1	-	14		c.676_splice	c.e14+1		ANKRD36C_uc002svc.1_Splice_Site					Homo sapiens cDNA FLJ41632 fis, clone FCBBF1000297, highly similar to Human protein immuno-reactive with anti-PTH polyclonal antibodies mRNA.											breast(1)|endometrium(8)|kidney(5)|lung(4)	18						AGTTTAATTACCTTCAAGGCT	0.284												
ST6GAL2	84620	broad.mit.edu	37	2	107450522	107450522	+	Missense_Mutation	SNP	G	G	A			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr2:107450522G>A	uc002tdq.3	-	2	1143	c.1024C>T	c.(1024-1026)Cgc>Tgc	p.R342C	ST6GAL2_uc002tdr.3_Missense_Mutation_p.R342C|ST6GAL2_uc002tds.3_Missense_Mutation_p.R342C	NM_001142351	NP_115917	Q96JF0	SIAT2_HUMAN	Homo sapiens ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 (ST6GAL2), transcript variant 2, mRNA.	342					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity	p.R342C(2)|p.I341V(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						TTAATGATGCGTATGGTGGTT	0.393												
GALNT13	114805	broad.mit.edu	37	2	155099239	155099239	+	Silent	SNP	C	C	T			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr2:155099239C>T	uc002tyt.4	+	3	611	c.507C>T	c.(505-507)taC>taT	p.Y169Y	GALNT13_uc002tyr.4_Silent_p.Y169Y|GALNT13_uc010foc.1_5'UTR	NM_052917	NP_443149	Q8IUC8	GLT13_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13) (GALNT13), mRNA.	169	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.Y169Y(2)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						TAGAGAATTACGTGAAAAATT	0.353												
XIRP2	129446	broad.mit.edu	37	2	168105145	168105145	+	Missense_Mutation	SNP	A	A	G			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr2:168105145A>G	uc002udx.3	+	8	7332	c.7243A>G	c.(7243-7245)Aaa>Gaa	p.K2415E	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.K2240E|XIRP2_uc010fpq.3_Missense_Mutation_p.K2193E|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	2240					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CATAACAGGAAAAACCGGTGT	0.438												
TTN	7273	broad.mit.edu	37	2	179398164	179398164	+	Missense_Mutation	SNP	G	G	A			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr2:179398164G>A	uc021vsy.1	-	306	95699	c.95474C>T	c.(95473-95475)aCa>aTa	p.T31825I	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.T25520I|TTN_uc021vta.1_Missense_Mutation_p.T25453I|TTN_uc021vtb.1_Missense_Mutation_p.T25328I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	32752	Fibronectin type-III 131.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCATTTTAATGTTGGTGGGGG	0.463												
AGXT	189	broad.mit.edu	37	2	241808307	241808308	+	Frame_Shift_Ins	INS	-	-	C	rs115014558	byFrequency	TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr2:241808307_241808308insC	uc002waa.4	+	0	146_147	c.25_26insC	c.(25-27)accfs	p.T9fs	AGXT_uc010zoi.1_Frame_Shift_Ins_p.T9fs	NM_000030	NP_000021	P21549	SPYA_HUMAN	Homo sapiens alanine-glyoxylate aminotransferase (AGXT), mRNA.	9			T -> N (in HP1).		glyoxylate metabolic process|protein targeting to peroxisome	mitochondrial matrix|peroxisomal matrix	alanine-glyoxylate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|serine-pyruvate transaminase activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)	18		all_epithelial(40;1.61e-15)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)	Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	GCTGCTGGTGACCCCCCCCAAG	0.663												
MYBL2	4605	broad.mit.edu	37	20	42331498	42331498	+	Silent	SNP	G	G	A			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr20:42331498G>A	uc002xlb.1	+	7	1535	c.1320G>A	c.(1318-1320)acG>acA	p.T440T	MYBL2_uc010zwj.1_Silent_p.T416T	NM_002466	NP_002457	P10244	MYBB_HUMAN	Homo sapiens v-myb myeloblastosis viral oncogene homolog (avian)-like 2 (MYBL2), mRNA.	440						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			ACAGCCTCACGCCCAAGAGCA	0.582												
CCT8L2	150160	broad.mit.edu	37	22	17072504	17072504	+	Missense_Mutation	SNP	C	C	T			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr22:17072504C>T	uc002zlp.1	-	0	1197	c.937G>A	c.(937-939)Gtg>Atg	p.V313M		NM_014406	NP_055221	Q96SF2	TCPQM_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 8 (theta)-like 2 (CCT8L2), mRNA.	313					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity	p.V313M(2)		breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				TGAATCACCACGATGCCATAC	0.557												
CHEK2	11200	broad.mit.edu	37	22	29083951	29083951	+	Silent	SNP	G	G	A	rs142890589	by1000genomes	TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr22:29083951G>A	uc003adu.1	-	14	1638	c.1566C>T	c.(1564-1566)ccC>ccT	p.P522P	CHEK2_uc010gvj.1_Non-coding_Transcript|CHEK2_uc003adr.1_Non-coding_Transcript|CHEK2_uc010gvk.1_Non-coding_Transcript|CHEK2_uc003ads.1_Silent_p.P301P|CHEK2_uc010gvh.1_Silent_p.P431P|CHEK2_uc010gvi.1_Silent_p.P371P|CHEK2_uc003adt.1_Silent_p.P565P|CHEK2_uc003adv.1_Silent_p.P493P|CHEK2_uc003adx.1_Silent_p.P301P	NM_007194	NP_009125	O96017	CHK2_HUMAN	Homo sapiens checkpoint kinase 2 (CHEK2), transcript variant 1, mRNA.	522					cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCCCTTCACGGGGCCGCTTTC	0.453			F			breast		Direct reversal of damage;Other conserved DNA damage response genes				
CHEK2	11200	broad.mit.edu	37	22	29083962	29083962	+	Missense_Mutation	SNP	G	G	C	rs138839489	by1000genomes	TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr22:29083962G>C	uc003adu.1	-	14	1627	c.1555C>G	c.(1555-1557)Cga>Gga	p.R519G	CHEK2_uc010gvj.1_Non-coding_Transcript|CHEK2_uc003adr.1_Non-coding_Transcript|CHEK2_uc010gvk.1_Non-coding_Transcript|CHEK2_uc003ads.1_Missense_Mutation_p.R298G|CHEK2_uc010gvh.1_Missense_Mutation_p.R428G|CHEK2_uc010gvi.1_Missense_Mutation_p.R368G|CHEK2_uc003adt.1_Missense_Mutation_p.R562G|CHEK2_uc003adv.1_Missense_Mutation_p.R490G|CHEK2_uc003adx.1_Missense_Mutation_p.R298G	NM_007194	NP_009125	O96017	CHK2_HUMAN	Homo sapiens checkpoint kinase 2 (CHEK2), transcript variant 1, mRNA.	519					cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.R519G(2)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						GGCCGCTTTCGACTAGTAGAA	0.463			F			breast		Direct reversal of damage;Other conserved DNA damage response genes				
FBLN2	2199	broad.mit.edu	37	3	13659763	13659763	+	Silent	SNP	C	C	T			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr3:13659763C>T	uc011avc.2	+	5	2299	c.1917C>T	c.(1915-1917)gaC>gaT	p.D639D	FBLN2_uc011auz.2_Silent_p.D665D|FBLN2_uc011avb.2_Silent_p.D639D|FBLN2_uc011ava.2_Silent_p.D639D	NM_001165035	NP_001158507	P98095	FBLN2_HUMAN	Homo sapiens fibulin 2 (FBLN2), transcript variant 3, mRNA.	639	EGF-like 1; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			CACTGCAGGACGATGGCCGCA	0.612												
SCN10A	6336	broad.mit.edu	37	3	38812783	38812783	+	Missense_Mutation	SNP	C	C	T			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr3:38812783C>T	uc003ciq.3	-	3	586	c.586G>A	c.(586-588)Gtc>Atc	p.V196I		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	196					sensory perception	voltage-gated sodium channel complex		p.V196I(2)		NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	AGGGTAATGACGCTAAAATCC	0.458												
GPX1	2876	broad.mit.edu	37	3	49395545	49395545	+	Missense_Mutation	SNP	T	T	G			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr3:49395545T>G	uc021wxw.1	-	0	247	c.167A>C	c.(166-168)tAc>tCc	p.Y56S	GPX1_uc021wxx.1_Missense_Mutation_p.Y56S	NM_000581	NP_000572	P07203	GPX1_HUMAN	Homo sapiens glutathione peroxidase 1 (GPX1), transcript variant 1, mRNA.	56					anti-apoptosis|cell redox homeostasis|glutathione metabolic process|heart contraction|hydrogen peroxide catabolic process|negative regulation of caspase activity|purine base metabolic process|purine nucleotide catabolic process|regulation of gene expression, epigenetic|regulation of mammary gland epithelial cell proliferation|regulation of proteasomal protein catabolic process|release of cytochrome c from mitochondria|response to selenium ion|UV protection	cytosol|mitochondrion	endopeptidase inhibitor activity|glutathione peroxidase activity|SH3 domain binding			breast(1)|large_intestine(2)|lung(1)	4				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	Glutathione(DB00143)	CATCTGGGTGTAGTCCCGGAC	0.692												
KIAA1407	57577	broad.mit.edu	37	3	113684122	113684122	+	Silent	SNP	C	C	T			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr3:113684122C>T	uc003eax.3	-	16	2838	c.2691G>A	c.(2689-2691)caG>caA	p.Q897Q		NM_020817	NP_065868	Q8NCU4	K1407_HUMAN	Homo sapiens KIAA1407 (KIAA1407), mRNA.	897										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						TACGAAGTTGCTGTCGCCTTT	0.408												
RAB43	339122	broad.mit.edu	37	3	128813923	128813923	+	Silent	SNP	G	G	A	rs145101068		TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr3:128813923G>A	uc003eln.2	-	1	609	c.294C>T	c.(292-294)taC>taT	p.Y98Y	ISY1-RAB43_uc003elo.2_Missense_Mutation_p.T314M|RAB43_uc021xdo.1_Nonsense_Mutation_p.R94*|RAB43_uc010hsy.2_Silent_p.Y98Y|RAB43_uc021xdp.1_Silent_p.Y98Y|RAB43_uc021xdq.1_Silent_p.Y98Y|RAB43_uc021xdr.1_Silent_p.Y98Y|RAB43_uc021xds.1_Silent_p.Y98Y	NM_198490	NP_940892	Q86YS6	RAB43_HUMAN	Homo sapiens RAB43, member RAS oncogene family (RAB43), transcript variant 1, mRNA.	98					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			kidney(2)|liver(1)|lung(2)|skin(1)	6						TGGTGATGTCGTAGGCAAGGA	0.572												
PIK3CA	5290	broad.mit.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	rs121913279		TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr3:178952085A>G	uc003fjk.3	+	20	3297	c.3140A>G	c.(3139-3141)cAt>cGt	p.H1047R		NM_006218	NP_006209	P42336	PK3CA_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.	1047	PI3K/PI4K.		H -> L (in cancer).|H -> R (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane).|H -> Y (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.H1047R(3170)|p.H1047L(409)|p.H1047Y(46)|p.A1046T(6)|p.H1047Q(3)|p.A1046E(2)|p.H1047P(2)|p.A1046V(2)|p.A1046A(1)|p.H1047T(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			AATGATGCACATCATGGTGGC	0.378	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)		
SPON2	10417	broad.mit.edu	37	4	1161329	1161329	+	Silent	SNP	G	G	A			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr4:1161329G>A	uc003gco.4	-	5	1256	c.927C>T	c.(925-927)ccC>ccT	p.P309P	SPON2_uc021xkj.1_Silent_p.P309P|SPON2_uc010ibr.3_Silent_p.P309P|SPON2_uc003gcm.1_3'UTR	NM_012445	NP_036577	Q9BUD6	SPON2_HUMAN	Homo sapiens spondin 2, extracellular matrix protein (SPON2), transcript variant 1, mRNA.	309	TSP type-1.				axon guidance|cell adhesion|innate immune response	proteinaceous extracellular matrix	metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|pancreas(1)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(23;0.00805)	UCEC - Uterine corpus endometrioid carcinoma (64;0.139)|Colorectal(103;0.19)		CGTTGTTGGCGGGCTGGACCC	0.682											OREG0016030	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
MSANTD1	345222	broad.mit.edu	37	4	3251162	3251162	+	Silent	SNP	C	C	T	rs143238822		TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr4:3251162C>T	uc003ggs.3	+	0	396	c.213C>T	c.(211-213)aaC>aaT	p.N71N		NM_001042690	NP_001036155	Q6ZTZ1	CD044_HUMAN	Homo sapiens chromosome 4 open reading frame 44 (C4orf44), mRNA.	71										endometrium(1)|lung(2)	3						CCAAGCGCAACGCCAAGGTGT	0.612												
HS3ST1	9957	broad.mit.edu	37	4	11401289	11401289	+	Missense_Mutation	SNP	T	T	C			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr4:11401289T>C	uc003gmq.3	-	1	664	c.341A>G	c.(340-342)cAg>cGg	p.Q114R	HS3ST1_uc021xmg.1_Missense_Mutation_p.Q114R	NM_005114	NP_005105	O14792	HS3S1_HUMAN	Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 1 (HS3ST1), mRNA.	114						Golgi lumen|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(3)	15						CACTGTGAGCTGGTGTGGCCA	0.617												
GRSF1	2926	broad.mit.edu	37	4	71691907	71691907	+	Silent	SNP	C	C	A			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr4:71691907C>A	uc010iia.1	-	6	1274	c.1191G>T	c.(1189-1191)acG>acT	p.T397T	GRSF1_uc011caz.1_Silent_p.T279T|GRSF1_uc003hfs.2_Silent_p.T235T	NM_002092	NP_001091947	Q12849	GRSF1_HUMAN	Homo sapiens G-rich RNA sequence binding factor 1 (GRSF1), transcript variant 1, mRNA.	397					mRNA polyadenylation		mRNA binding|nucleotide binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(2)	17		all_hematologic(202;0.21)	Lung(101;0.235)			GCAGAGAAGACGTAGTTCCAA	0.423												
TET2	54790	broad.mit.edu	37	4	106155901	106155901	+	Missense_Mutation	SNP	T	T	G			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr4:106155901T>G	uc011cez.2	+	2	1270	c.865T>G	c.(865-867)Tcg>Gcg	p.S289A	TET2_uc003hxk.3_Missense_Mutation_p.S268A|TET2_uc003hxj.2_Non-coding_Transcript|TET2_uc021xqk.1_Missense_Mutation_p.S268A|TET2_uc010ilp.2_Missense_Mutation_p.S268A|TET2_uc021xql.1_Missense_Mutation_p.S268A	NM_001127208	NP_001120680	Q6N021	TET2_HUMAN	Homo sapiens tet methylcytosine dioxygenase 2 (TET2), transcript variant 1, mRNA.	268					cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.A289fs*4(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		CACTCACCCATCGCATACCTC	0.498			"""Mis N, F"""		MDS							
ACSL1	2180	broad.mit.edu	37	4	185681554	185681554	+	Missense_Mutation	SNP	C	C	G			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr4:185681554C>G	uc003iww.2	-	17	2033	c.1739G>C	c.(1738-1740)aGt>aCt	p.S580T	ACSL1_uc011ckm.1_Missense_Mutation_p.S409T|ACSL1_uc003iwt.1_Missense_Mutation_p.S580T|ACSL1_uc003iwu.1_Missense_Mutation_p.S580T|ACSL1_uc011ckn.1_Missense_Mutation_p.S546T|ACSL1_uc003iws.1_Missense_Mutation_p.S140T	NM_001995	NP_001986	P33121	ACSL1_HUMAN	Homo sapiens acyl-CoA synthetase long-chain family member 1 (ACSL1), mRNA.	580					digestion|fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|regulation of fatty acid oxidation|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2)	38		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	AACAGGCTCACTTCGCATGTA	0.443												
DROSHA	29102	broad.mit.edu	37	5	31508865	31508865	+	Missense_Mutation	SNP	C	C	T			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr5:31508865C>T	uc003jhg.2	-	8	1809	c.1450G>A	c.(1450-1452)Gag>Aag	p.E484K	DROSHA_uc003jhh.2_Missense_Mutation_p.E447K|DROSHA_uc003jhi.2_Missense_Mutation_p.E447K|DROSHA_uc010iui.1_Missense_Mutation_p.E407K	NM_013235	NP_037367	Q9NRR4	RNC_HUMAN	Homo sapiens drosha, ribonuclease type III (DROSHA), transcript variant 1, mRNA.	484					gene silencing by RNA|ribosome biogenesis|RNA processing	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						GACTCACACTCGGATTCACTG	0.443												
SLC30A5	64924	broad.mit.edu	37	5	68411085	68411085	+	Missense_Mutation	SNP	C	C	G			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr5:68411085C>G	uc003jvh.3	+	7	941	c.634C>G	c.(634-636)Ctg>Gtg	p.L212V	SLC30A5_uc003jvj.3_5'Flank|SLC30A5_uc003jvk.3_5'Flank|SLC30A5_uc003jvi.3_Missense_Mutation_p.L41V	NM_022902	NP_075053	Q8TAD4	ZNT5_HUMAN	Homo sapiens solute carrier family 30 (zinc transporter), member 5 (SLC30A5), transcript variant 1, mRNA.	212					cellular zinc ion homeostasis|cobalt ion transport|regulation of proton transport|response to zinc ion	apical plasma membrane|Golgi apparatus|integral to plasma membrane|membrane fraction|secretory granule membrane	zinc ion binding|zinc ion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Lung NSC(167;0.000986)|Prostate(74;0.00809)|Colorectal(97;0.0508)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)		ATTGCTAGTACTGGCTTTGTG	0.373												
PCDHAC2	56145	broad.mit.edu	37	5	140180868	140180868	+	Missense_Mutation	SNP	G	G	A			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr5:140180868G>A	uc003lhf.2	+	0	86	c.86G>A	c.(85-87)gGc>gAc	p.G29D	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc011czy.2_Intron|PCDHAC2_uc011czz.2_Missense_Mutation_p.G29D	NM_018906	NP_061729	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 3 (PCDHA3), transcript variant 1, mRNA.	42					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGGGGAGCGGCCAGCTCCAC	0.637												
PCDHGC5	56113	broad.mit.edu	37	5	140720212	140720212	+	Silent	SNP	C	C	T	rs150000282	byFrequency	TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr5:140720212C>T	uc003ljk.2	+	0	1859	c.1674C>T	c.(1672-1674)aaC>aaT	p.N558N	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc011dao.2_Silent_p.N558N	NM_018915	NP_061738	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 2 (PCDHGA2), transcript variant 1, mRNA.	560	Cadherin 5.				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)			AGAACGACAACGCGCCCGAGA	0.622												
TRIM26	7726	broad.mit.edu	37	6	30153775	30153775	+	Missense_Mutation	SNP	C	C	A			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr6:30153775C>A	uc003npr.3	-	8	1707	c.1498G>T	c.(1498-1500)Gtg>Ttg	p.V500L	TRIM26_uc003nps.3_Missense_Mutation_p.V500L|TRIM26_uc003npt.3_Missense_Mutation_p.V500L|TRIM26_uc010jry.3_Missense_Mutation_p.V230L	NM_003449	NP_003440	Q12899	TRI26_HUMAN	Homo sapiens tripartite motif containing 26 (TRIM26), transcript variant 1, mRNA.	500	B30.2/SPRY.						DNA binding|zinc ion binding			lung(1)|ovary(2)	3						GTGAAAGTCACGGTGCCCCCT	0.627												
HLA-DPA1	3113	broad.mit.edu	37	6	33036842	33036842	+	Silent	SNP	G	G	A			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr6:33036842G>A	uc003ocs.2	-	2	689	c.582C>T	c.(580-582)tgC>tgT	p.C194C	HLA-DPA1_uc021ywg.1_Silent_p.C194C|HLA-DPA1_uc021ywh.1_Silent_p.C194C|HLA-DPA1_uc010juk.3_Silent_p.C194C	NM_033554	NP_291032	P20036	DPA1_HUMAN	Homo sapiens major histocompatibility complex, class II, DP alpha 1 (HLA-DPA1), transcript variant 1, mRNA.	194	Alpha-2.|Ig-like C1-type.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to plasma membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			kidney(5)|large_intestine(1)|lung(6)|prostate(1)|skin(2)	15						GCTCCACCCTGCAGTCATAGA	0.537												
FAM83B	222584	broad.mit.edu	37	6	54805390	54805390	+	Missense_Mutation	SNP	C	C	T			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr6:54805390C>T	uc003pck.3	+	4	1737	c.1621C>T	c.(1621-1623)Cgt>Tgt	p.R541C		NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN	Homo sapiens family with sequence similarity 83, member B (FAM83B), mRNA.	541				R -> S (in Ref. 4; BAB70873).				p.R541L(2)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					TTCTCGGCTTCGTTCCTCTTT	0.418												
PRIM2	5558	broad.mit.edu	37	6	57498985	57498985	+	Missense_Mutation	SNP	G	G	C			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr6:57498985G>C	uc003pdx.3	+	13	1333	c.1246G>C	c.(1246-1248)Ggg>Cgg	p.G416R		NM_000947	NP_000938	P49643	PRI2_HUMAN	Homo sapiens primase, DNA, polypeptide 2 (58kDa) (PRIM2), mRNA.	417					DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|nucleoplasm	4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1)	59				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		TTTAGTAAAGGGGACACATTA	0.299												
ELFN1	392617	broad.mit.edu	37	7	1786648	1786648	+	Missense_Mutation	SNP	T	T	C			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr7:1786648T>C	uc010ksg.2	+	1	2800	c.2416T>C	c.(2416-2418)Ttc>Ctc	p.F806L		NM_001128636	NP_001122108			Homo sapiens extracellular leucine-rich repeat and fibronectin type III domain containing 1 (ELFN1), mRNA.											endometrium(1)	1						GAAGGTTCAGTTCGCCAAAGA	0.637												
AHR	196	broad.mit.edu	37	7	17375305	17375305	+	Missense_Mutation	SNP	G	G	A			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr7:17375305G>A	uc011jxz.1	+	8	1668	c.1055G>A	c.(1054-1056)cGg>cAg	p.R352Q		NM_001621	NP_001612	P35869	AHR_HUMAN	Homo sapiens aryl hydrocarbon receptor (AHR), mRNA.	352	PAC.				apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process	cytosolic aryl hydrocarbon receptor complex|transcription factor complex	Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33	Lung NSC(10;0.0392)|all_lung(11;0.0754)					ATAGTTTTCCGGCTTCTTACA	0.333												
AOAH	313	broad.mit.edu	37	7	36571798	36571798	+	Silent	SNP	G	G	A			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr7:36571798G>A	uc022abu.1	-	17	1781	c.1380C>T	c.(1378-1380)caC>caT	p.H460H	AOAH_uc003tfh.4_Silent_p.H460H|AOAH_uc011kba.2_Silent_p.H428H	NM_001177506	NP_001170977	P28039	AOAH_HUMAN	Homo sapiens acyloxyacyl hydrolase (neutrophil) (AOAH), transcript variant 2, mRNA.	460					inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity	p.H460H(4)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						ACATCCAGCCGTGGCAGGGGC	0.512												
LAT2	7462	broad.mit.edu	37	7	73630358	73630358	+	Missense_Mutation	SNP	T	T	G			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr7:73630358T>G	uc003uag.3	+	2	603	c.53T>G	c.(52-54)tTg>tGg	p.L18W	LAT2_uc003uah.3_Missense_Mutation_p.L18W|LAT2_uc003uai.3_Missense_Mutation_p.L18W|LAT2_uc010lbo.3_Non-coding_Transcript	NM_032464	NP_115853	Q9GZY6	NTAL_HUMAN	Homo sapiens linker for activation of T cells family, member 2 (LAT2), transcript variant 1, mRNA.	18					B cell activation|B cell receptor signaling pathway|calcium-mediated signaling|mast cell degranulation	integral to membrane|intracellular|membrane raft|plasma membrane	SH2 domain binding	p.L18W(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)	6						CTGGTGCTGTTGGGGGTGGCA	0.637												
SMO	6608	broad.mit.edu	37	7	128843306	128843306	+	Missense_Mutation	SNP	G	G	A			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr7:128843306G>A	uc003vor.3	+	1	693	c.413G>A	c.(412-414)cGg>cAg	p.R138Q		NM_005631	NP_005622	Q99835	SMO_HUMAN	Homo sapiens smoothened, frizzled family receptor (SMO), mRNA.	138	FZ.				adenohypophysis development|axon extension involved in axon guidance|canonical Wnt receptor signaling pathway|cardioblast differentiation|central nervous system neuron differentiation|cerebellar cortex morphogenesis|ciliary receptor clustering involved in smoothened signaling pathway|determination of left/right symmetry|dorsal/ventral neural tube patterning|embryonic camera-type eye development|embryonic digestive tract morphogenesis|embryonic neurocranium morphogenesis|embryonic viscerocranium morphogenesis|exocrine pancreas development|facial nerve development|floor plate formation|gonad development|heart morphogenesis|muscle cell fate commitment|negative regulation of apoptosis|neural crest cell migration|neuron fate commitment|neuron projection regeneration|odontogenesis of dentine-containing tooth|osteoblast differentiation|otolith morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of neuroblast proliferation|positive regulation of smoothened signaling pathway|semicircular canal morphogenesis|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation|smoothened signaling pathway involved in ventral spinal cord patterning|spermatogenesis|vasculogenesis	cilium|cytoplasm|integral to membrane|neuronal cell body|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			biliary_tract(1)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(14)|liver(1)|lung(11)|pancreas(2)|prostate(1)|skin(20)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						GAGAATGACCGGGTGGAGCTG	0.672			Mis		skin basal cell							
KEL	3792	broad.mit.edu	37	7	142639595	142639595	+	Missense_Mutation	SNP	G	G	A			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr7:142639595G>A	uc003wcb.3	-	17	2173	c.1963C>T	c.(1963-1965)Cgg>Tgg	p.R655W		NM_000420	NP_000411	P23276	KELL_HUMAN	Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA.	655					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	p.R655W(2)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					CCATGGTGCCGTAACAGCCTC	0.597												
AGAP3	116988	broad.mit.edu	37	7	150835302	150835302	+	Missense_Mutation	SNP	C	C	T			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr7:150835302C>T	uc003wjg.1	+	11	1571	c.1568C>T	c.(1567-1569)cCg>cTg	p.P523L	AGAP3_uc003wje.1_Intron|AGAP3_uc003wjj.1_Intron|AGAP3_uc003wjk.1_5'Flank	NM_031946	NP_114152	Q96P47	AGAP3_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 3 (AGAP3), transcript variant 1, mRNA.	487	PH.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						TGGGCTGGCCCGCGCCCTGAG	0.716												
NUB1	51667	broad.mit.edu	37	7	151065966	151065966	+	Missense_Mutation	SNP	G	G	A			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr7:151065966G>A	uc003wjx.3	+	10	1329	c.1313G>A	c.(1312-1314)cGc>cAc	p.R438H	NUB1_uc003wjw.3_Missense_Mutation_p.R414H|AK055458_uc003wjz.1_5'Flank	NM_001243351	NP_001230280	Q9Y5A7	NUB1_HUMAN	Homo sapiens negative regulator of ubiquitin-like proteins 1 (NUB1), transcript variant 1, mRNA.	414	NEDD8-binding 1.|UBA 2.				positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|response to interferon-gamma|response to tumor necrosis factor|ubiquitin-dependent protein catabolic process	nucleus	protein binding			endometrium(1)|large_intestine(7)|lung(3)	11			OV - Ovarian serous cystadenocarcinoma(82;0.00569)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)		ATTACCAACCGCAGAGAGGTA	0.483												
CTSB	1508	broad.mit.edu	37	8	11706616	11706616	+	Missense_Mutation	SNP	C	C	T			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr8:11706616C>T	uc003wuq.3	-	4	547	c.385G>A	c.(385-387)Gtc>Atc	p.V129I	CTSB_uc003wul.3_5'Flank|CTSB_uc010lsc.3_Intron|CTSB_uc011kxl.2_Missense_Mutation_p.V50I|CTSB_uc003wum.3_Missense_Mutation_p.V129I|CTSB_uc003wun.3_Missense_Mutation_p.V129I|CTSB_uc003wuo.3_Missense_Mutation_p.V129I|CTSB_uc003wup.3_Missense_Mutation_p.V129I|CTSB_uc003wuu.3_5'UTR	NM_001908	NP_680093	P07858	CATB_HUMAN	Homo sapiens cathepsin B (CTSB), transcript variant 1, mRNA.	129					proteolysis|regulation of apoptosis|regulation of catalytic activity	lysosome|melanosome	cysteine-type endopeptidase activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(1)	16	all_epithelial(15;0.205)		STAD - Stomach adenocarcinoma(15;0.00546)	COAD - Colon adenocarcinoma(149;0.184)		TCCACGCTGACGTGCGCATTG	0.642												
FAM92A1	137392	broad.mit.edu	37	8	94713461	94713461	+	Silent	SNP	A	A	G			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr8:94713461A>G	uc022ayd.1	+	1	139	c.36A>G	c.(34-36)caA>caG	p.Q12Q	LINC00535_uc022ayb.1_5'Flank|FAM92A1_uc003yfu.1_Non-coding_Transcript|FAM92A1_uc022ayc.1_Silent_p.Q12Q	NM_145269	NP_660312	A1XBS5	F92A1_HUMAN	Homo sapiens family with sequence similarity 92, member A1 (FAM92A1), mRNA.	12										NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)	7	Breast(36;2.4e-06)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			GGAACGCTCAAACGAAACAAC	0.453												
PIGO	84720	broad.mit.edu	37	9	35092240	35092240	+	Silent	SNP	G	G	T			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr9:35092240G>T	uc003zwd.3	-	6	2040	c.1644C>A	c.(1642-1644)ccC>ccA	p.P548P	PIGO_uc003zwe.3_Intron|PIGO_uc003zwf.3_Intron|PIGO_uc003zwc.1_3'UTR|PIGO_uc003zwg.2_Silent_p.P111P	NM_032634	NP_116023	Q8TEQ8	PIGO_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class O (PIGO), transcript variant 1, mRNA.	548					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity	p.G547E(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			GTAACAGGACGGGCCCAGGGA	0.577												
RUSC2	9853	broad.mit.edu	37	9	35561054	35561054	+	Missense_Mutation	SNP	C	C	G			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr9:35561054C>G	uc003zww.3	+	10	4564	c.4309C>G	c.(4309-4311)Cag>Gag	p.Q1437E	RUSC2_uc010mkq.3_Non-coding_Transcript|RUSC2_uc003zwx.4_Missense_Mutation_p.Q1437E	NM_014806	NP_055621	Q8N2Y8	RUSC2_HUMAN	Homo sapiens RUN and SH3 domain containing 2 (RUSC2), mRNA.	1437						cytosol				NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			GGAGAGCCTGCAGGAGCCACA	0.657												
P2RY8	286530	broad.mit.edu	37	X	1584669	1584669	+	Silent	SNP	G	G	A			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chrX:1584669G>A	uc022brv.1	-	0	783	c.783C>T	c.(781-783)atC>atT	p.I261I	CRLF2_uc022brt.1_Intron|P2RY8_uc004cpz.2_Silent_p.I261I	NM_178129	NP_835230	Q86VZ1	P2RY8_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 8 (P2RY8), mRNA.	261						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.I261I(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GGCGGCTCACGATGTGCGCCA	0.612			T	CRLF2	"""B-ALL, Downs associated ALL"""							
GSPT2	23708	broad.mit.edu	37	X	51487887	51487887	+	Missense_Mutation	SNP	C	C	T			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chrX:51487887C>T	uc004dpl.3	+	0	1407	c.1165C>T	c.(1165-1167)Ccc>Tcc	p.P389S		NM_018094	NP_060564	Q8IYD1	ERF3B_HUMAN	Homo sapiens G1 to S phase transition 2 (GSPT2), mRNA.	389					cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|translational termination	cytoplasm	GTP binding|GTPase activity|protein binding			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Ovarian(276;0.236)					TCACTTTATGCCCTGCTCAGG	0.393												
PFKFB1	5207	broad.mit.edu	37	X	54986328	54986328	+	Splice_Site	SNP	T	T	C			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chrX:54986328T>C	uc004dty.1	-	4	389	c.318_splice	c.e4-1	p.K106_splice	PFKFB1_uc010nkd.1_Splice_Site_p.K92_splice|PFKFB1_uc011mol.1_Splice_Site_p.K41_splice	NM_002625	NP_002616	P16118	F261_HUMAN	Homo sapiens 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 (PFKFB1), mRNA.	106	6-phosphofructo-2-kinase.				energy reserve metabolic process|fructose 2,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|intracellular protein kinase cascade	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 complex	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)	24						GCGCACTGCCTGAAATAGACC	0.443												
IL13RA2	3598	broad.mit.edu	37	X	114248418	114248418	+	Silent	SNP	G	G	A			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chrX:114248418G>A	uc004epx.3	-	4	560	c.435C>T	c.(433-435)tgC>tgT	p.C145C	IL13RA2_uc010nqd.1_Silent_p.C145C|IL13RA2_uc022cdb.1_Silent_p.C145C	NM_000640	NP_000631	Q14627	I13R2_HUMAN	Homo sapiens interleukin 13 receptor, alpha 2 (IL13RA2), mRNA.	145	Fibronectin type-III 2.					extracellular space|integral to membrane|soluble fraction	cytokine receptor activity			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	23						TGTAATATACGCAATCCATAT	0.328												
