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
FBLIM1	54751	broad.mit.edu	37	1	16093947	16093947	+	Silent	SNP	G	G	A	rs138682032		TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr1:16093947G>A	uc001axd.1	+	4	770	c.327G>A	c.(325-327)ccG>ccA	p.P109P	FBLIM1_uc001axe.1_Silent_p.P109P|FBLIM1_uc001axg.1_Silent_p.P109P|FBLIM1_uc001axh.1_Intron|FBLIM1_uc001axi.1_Intron	NM_017556	NP_060026	Q8WUP2	FBLI1_HUMAN	Homo sapiens filamin binding LIM protein 1 (FBLIM1), transcript variant 1, mRNA.	109	Pro-rich.				cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytoskeleton|cytosol|focal adhesion|intracellular membrane-bounded organelle	zinc ion binding			large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	16		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|READ - Rectum adenocarcinoma(331;0.0649)|STAD - Stomach adenocarcinoma(313;0.138)		CCCCTCCACCGCCCCCTCCAG	0.657												
AKR7A3	22977	broad.mit.edu	37	1	19615062	19615062	+	Missense_Mutation	SNP	C	C	G			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr1:19615062C>G	uc001bbv.1	-	0	219	c.142G>C	c.(142-144)Gtg>Ctg	p.V48L		NM_012067	NP_036199	O95154	ARK73_HUMAN	Homo sapiens aldo-keto reductase family 7, member A3 (aflatoxin aldehyde reductase) (AKR7A3), mRNA.	48					cellular aldehyde metabolic process	cytosol	aldo-keto reductase (NADP) activity|electron carrier activity			NS(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|stomach(2)	13		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;1.78e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00276)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		TCGCTGTACACGAAGGCCGTG	0.711												
LRIF1	55791	broad.mit.edu	37	1	111494470	111494470	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr1:111494470G>A	uc001eaa.3	-	1	1292	c.1036C>T	c.(1036-1038)Cga>Tga	p.R346*	LRIF1_uc001dzz.3_Intron|LRIF1_uc001eab.3_Intron	NM_018372	NP_060842	Q5T3J3	LRIF1_HUMAN	Homo sapiens ligand dependent nuclear receptor interacting factor 1 (LRIF1), transcript variant 1, mRNA.	346					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	protein binding	p.R346Q(1)		endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2)	28						TTTTTGGATCGCGTCCCACTA	0.353												
HIPK1	204851	broad.mit.edu	37	1	114508833	114508833	+	Missense_Mutation	SNP	G	G	T			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr1:114508833G>T	uc001eem.3	+	10	2481	c.2320G>T	c.(2320-2322)Gtc>Ttc	p.V774F	HIPK1_uc001eel.3_Missense_Mutation_p.V774F|HIPK1_uc001een.3_Missense_Mutation_p.V774F|HIPK1_uc001eeo.3_Missense_Mutation_p.V400F|HIPK1_uc001eep.3_Missense_Mutation_p.V380F|HIPK1_uc001eeq.3_Missense_Mutation_p.V66F	NM_198268	NP_938010	Q86Z02	HIPK1_HUMAN	Homo sapiens homeodomain interacting protein kinase 1 (HIPK1), transcript variant 1, mRNA.	774					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACACAACTCTGTCCAGCCCAC	0.542												
HIPK1	204851	broad.mit.edu	37	1	114508840	114508840	+	Missense_Mutation	SNP	C	C	A			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr1:114508840C>A	uc001eem.3	+	10	2488	c.2327C>A	c.(2326-2328)cCc>cAc	p.P776H	HIPK1_uc001eel.3_Missense_Mutation_p.P776H|HIPK1_uc001een.3_Missense_Mutation_p.P776H|HIPK1_uc001eeo.3_Missense_Mutation_p.P402H|HIPK1_uc001eep.3_Missense_Mutation_p.P382H|HIPK1_uc001eeq.3_Missense_Mutation_p.P68H	NM_198268	NP_938010	Q86Z02	HIPK1_HUMAN	Homo sapiens homeodomain interacting protein kinase 1 (HIPK1), transcript variant 1, mRNA.	776					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCTGTCCAGCCCACAGCAATG	0.552												
GBA	2630	broad.mit.edu	37	1	155186783	155186783	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr1:155186783C>T	uc001fjd.3	-	4	521	c.377G>A	c.(376-378)cGt>cAt	p.R126H	GBA_uc001fjf.4_Missense_Mutation_p.R87H|GBA_uc001fje.4_Missense_Mutation_p.R48H|GBA_uc021pau.1_Missense_Mutation_p.R48H			P04062	GLCM_HUMAN	Homo sapiens glucosidase, beta, acid pseudogene 1 (GBAP1), non-coding RNA.	209					carbohydrate metabolic process|cell death|cellular response to tumor necrosis factor|ceramide biosynthetic process|glucosylceramide catabolic process|lysosome organization|negative regulation of interleukin-6 production|negative regulation of MAP kinase activity|positive regulation of protein dephosphorylation|sphingosine biosynthetic process|termination of signal transduction	lysosomal lumen|lysosomal membrane	cation binding|glucosylceramidase activity|receptor binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	26	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		Alglucerase(DB00088)|Imiglucerase(DB00053)	TGAAACGGGACGCTGGGCCAA	0.582									Gaucher disease type I			
SMG5	23381	broad.mit.edu	37	1	156235769	156235769	+	Missense_Mutation	SNP	T	T	C	rs151295845	byFrequency	TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr1:156235769T>C	uc001foc.4	-	11	1807	c.1658A>G	c.(1657-1659)aAt>aGt	p.N553S		NM_015327	NP_056142	Q9UPR3	SMG5_HUMAN	Homo sapiens smg-5 homolog, nonsense mediated mRNA decay factor (C. elegans) (SMG5), mRNA.	553					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|nucleus	protein phosphatase 2A binding			NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48	Hepatocellular(266;0.158)					CAGTGGGCCATTGAGGGAATC	0.607												
CADM3	57863	broad.mit.edu	37	1	159162382	159162382	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr1:159162382C>T	uc001ftl.2	+	2	423	c.244C>T	c.(244-246)Cga>Tga	p.R82*	CADM3_uc009wsx.1_Nonsense_Mutation_p.R116*|CADM3_uc009wsy.1_Nonsense_Mutation_p.R82*|CADM3_uc001ftk.2_Nonsense_Mutation_p.R116*	NM_001127173	NP_001120645	Q8N126	CADM3_HUMAN	Homo sapiens cell adhesion molecule 3 (CADM3), transcript variant 2, mRNA.	82	Ig-like V-type.				adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					TCGAGATAATCGAATTCAGCT	0.512												
PVRL4	81607	broad.mit.edu	37	1	161049728	161049728	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr1:161049728C>T	uc001fxo.2	-	1	390	c.91G>A	c.(91-93)Gcg>Acg	p.A31T		NM_030916	NP_112178	Q96NY8	PVRL4_HUMAN	Homo sapiens poliovirus receptor-related 4 (PVRL4), mRNA.	31					adherens junction organization|cell adhesion|cell junction assembly	adherens junction|extracellular region|integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			AGCTCACCCGCGGGGCACCGG	0.627												
XCL1	6375	broad.mit.edu	37	1	168550427	168550427	+	Missense_Mutation	SNP	C	C	T	rs141027416		TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr1:168550427C>T	uc001gfo.2	+	2	479	c.314C>T	c.(313-315)tCg>tTg	p.S105L		NM_002995	NP_002986	P47992	XCL1_HUMAN	Homo sapiens chemokine (C motif) ligand 1 (XCL1), mRNA.	105					CD4-positive, alpha-beta T cell proliferation|CD8-positive, alpha-beta T cell proliferation|cell-cell signaling|cellular response to interleukin-4|cellular response to transforming growth factor beta stimulus|immunoglobulin production in mucosal tissue|lymphocyte chemotaxis|negative regulation of interferon-gamma production|negative regulation of interleukin-2 production|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T cell cytokine production|negative regulation of T-helper 1 cell activation|negative regulation of transcription, DNA-dependent|neutrophil chemotaxis|positive regulation of activated T cell proliferation|positive regulation of B cell chemotaxis|positive regulation of granzyme A production|positive regulation of granzyme B production|positive regulation of interleukin-10 production|positive regulation of natural killer cell chemotaxis|positive regulation of neutrophil chemotaxis|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of T cell chemotaxis|positive regulation of T cell cytokine production|positive regulation of T cell mediated cytotoxicity|positive regulation of thymocyte migration|positive regulation of transforming growth factor-beta production|regulation of inflammatory response|release of sequestered calcium ion into cytosol|response to virus|T-helper 1 cell cytokine production|T-helper 2 cell cytokine production	extracellular space	chemokine activity|protein homodimerization activity			kidney(2)|lung(7)|upper_aerodigestive_tract(1)	10	all_hematologic(923;0.208)					ACCCAGCAATCGACCAATACA	0.522												
SELE	6401	broad.mit.edu	37	1	169697312	169697312	+	Missense_Mutation	SNP	C	C	T	rs139137736		TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr1:169697312C>T	uc001ggm.4	-	7	1323	c.1166G>A	c.(1165-1167)cGt>cAt	p.R389H	C1orf112_uc001ggj.3_Intron	NM_000450	NP_000441	P16581	LYAM2_HUMAN	Homo sapiens selectin E (SELE), mRNA.	389	Sushi 4.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					GGACCCATAACGGAAACTGCC	0.522												
OR2M3	127062	broad.mit.edu	37	1	248367150	248367150	+	Missense_Mutation	SNP	C	C	T	rs147728074	byFrequency	TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr1:248367150C>T	uc010pzg.2	+	0	781	c.781C>T	c.(781-783)Cgg>Tgg	p.R261W		NM_001004689	NP_001004689	Q8NG83	OR2M3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 3 (OR2M3), mRNA.	261					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R261W(2)		endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CATGTACATACGGCCCACATC	0.502												
SLIT1	6585	broad.mit.edu	37	10	98808848	98808848	+	Silent	SNP	G	G	A			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr10:98808848G>A	uc001kmw.2	-	13	1581	c.1329C>T	c.(1327-1329)tgC>tgT	p.C443C	SLIT1_uc009xvh.1_Silent_p.C453C	NM_003061	NP_003052	O75093	SLIT1_HUMAN	Homo sapiens slit homolog 1 (Drosophila) (SLIT1), mRNA.	443	LRRCT 2.				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		GGTTACAGTCGCAAATGAAAG	0.617												
RBMXL2	27288	broad.mit.edu	37	11	7111073	7111073	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr11:7111073G>A	uc001mfc.2	+	0	909	c.722G>A	c.(721-723)cGc>cAc	p.R241H		NM_014469	NP_055284	O75526	HNRGT_HUMAN	Homo sapiens RNA binding motif protein, X-linked-like 2 (RBMXL2), mRNA.	241	Arg/Gly/Pro-rich.					nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TACACCCACCGCGATTACGGC	0.662												
ABCC8	6833	broad.mit.edu	37	11	17419338	17419338	+	Missense_Mutation	SNP	T	T	C			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr11:17419338T>C	uc001mnc.3	-	30	3886	c.3760A>G	c.(3760-3762)Atc>Gtc	p.I1254V		NM_000352	NP_000343	Q09428	ABCC8_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 8 (ABCC8), mRNA.	1254	ABC transmembrane type-1 2.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	CATGCACCGATGTACTCCTGG	0.632												
MS4A14	84689	broad.mit.edu	37	11	60183620	60183620	+	Silent	SNP	C	C	T			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr11:60183620C>T	uc001npj.3	+	4	1744	c.1179C>T	c.(1177-1179)caC>caT	p.H393H	MS4A14_uc001npi.3_Silent_p.H281H|MS4A14_uc001npn.3_Silent_p.H131H|MS4A14_uc001npk.3_Silent_p.H376H|MS4A14_uc001npl.3_Silent_p.H131H|MS4A14_uc001npm.3_Silent_p.H131H	NM_032597	NP_115986	Q96JA4	M4A14_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 14 (MS4A14), transcript variant 1, mRNA.	393						integral to membrane	receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						caccatcccacgccatgccac	0.448												
LRP5	4041	broad.mit.edu	37	11	68177525	68177525	+	Silent	SNP	G	G	A			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr11:68177525G>A	uc001ont.3	+	9	2310	c.2235G>A	c.(2233-2235)gcG>gcA	p.A745A	LRP5_uc009ysg.3_Silent_p.A155A	NM_002335	NP_002326	O75197	LRP5_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 5 (LRP5), mRNA.	745	Beta-propeller 3.				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TCGAAGTGGCGCGGCTGGACG	0.617												
CBL	867	broad.mit.edu	37	11	119148932	119148932	+	Missense_Mutation	SNP	T	T	G			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr11:119148932T>G	uc001pwe.3	+	7	1290	c.1152T>G	c.(1150-1152)tgT>tgG	p.C384W		NM_005188	NP_005179	P22681	CBL_HUMAN	Homo sapiens Cas-Br-M (murine) ecotropic retroviral transforming sequence (CBL), mRNA.	384	Asp/Glu-rich (acidic).				epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis	cytosol|nucleus	calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	p.E366_Q409del(26)|p.C384R(8)|p.C384Y(5)|p.E366_K477del(2)|p.E369_D390del(2)|p.E369_Q409del(2)|p.?(1)|p.K322_D460del(1)		breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		GTAAAATATGTGCTGAAAATG	0.353			"""T, Mis S, O"""	MLL	"""AML, JMML, MDS"""				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies			
APOF	319	broad.mit.edu	37	12	56755294	56755294	+	Missense_Mutation	SNP	C	C	A			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr12:56755294C>A	uc001sle.1	-	1	750	c.696G>T	c.(694-696)atG>atT	p.M232I		NM_001638	NP_001629	Q13790	APOF_HUMAN	Homo sapiens apolipoprotein F (APOF), mRNA.	232					cholesterol metabolic process	high-density lipoprotein particle|low-density lipoprotein particle	cholesterol binding|lipid transporter activity|receptor binding			breast(1)|lung(3)|prostate(1)|stomach(1)	6						GCCCCCCTGACATCCCAGCCA	0.517												
CAPS2	84698	broad.mit.edu	37	12	75678781	75678781	+	Missense_Mutation	SNP	A	A	G			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr12:75678781A>G	uc001sxl.3	-	14	1504	c.1475T>C	c.(1474-1476)aTt>aCt	p.I492T	CAPS2_uc001sxm.3_Missense_Mutation_p.I279T|CAPS2_uc009zsa.2_Missense_Mutation_p.I101T|CAPS2_uc001sxi.4_Missense_Mutation_p.I247T|CAPS2_uc001sxj.4_Missense_Mutation_p.I422T|CAPS2_uc001sxk.4_Missense_Mutation_p.I511T	NM_032606	NP_115995	Q9BXY5	CAYP2_HUMAN	Homo sapiens calcyphosine 2 (CAPS2), mRNA.	511	EF-hand 2.						calcium ion binding			endometrium(2)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	10						CATTTCACCAATAATACCACG	0.313												
TDG	6996	broad.mit.edu	37	12	104378553	104378553	+	Missense_Mutation	SNP	T	T	A			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr12:104378553T>A	uc001tkg.3	+	7	1042	c.819T>A	c.(817-819)agT>agA	p.S273R	TDG_uc009zuk.3_Missense_Mutation_p.S269R|TDG_uc010swi.2_Missense_Mutation_p.S130R|TDG_uc010swj.2_Missense_Mutation_p.S61R	NM_003211	NP_003202	Q13569	TDG_HUMAN	Homo sapiens thymine-DNA glycosylase (TDG), mRNA.	273					depyrimidination|mismatch repair	nucleoplasm	damaged DNA binding|mismatched DNA binding|protein binding|pyrimidine-specific mismatch base pair DNA N-glycosylase activity	p.S273I(1)		large_intestine(2)|lung(14)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(302;0.00114)		CATCATCCAGTGCAAGATGTG	0.338								Base excision repair (BER), DNA glycosylases				
TMEM132D	121256	broad.mit.edu	37	12	129558525	129558525	+	Silent	SNP	G	G	A			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr12:129558525G>A	uc009zyl.1	-	8	3523	c.3195C>T	c.(3193-3195)atC>atT	p.I1065I	TMEM132D_uc001uia.2_Silent_p.I603I	NM_133448	NP_597705	Q14C87	T132D_HUMAN	Homo sapiens transmembrane protein 132D (TMEM132D), mRNA.	1065						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		TACTCATCACGATGGAGTTCC	0.517												
EFNB2	1948	broad.mit.edu	37	13	107187195	107187195	+	Missense_Mutation	SNP	A	A	C			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr13:107187195A>C	uc001vqi.3	-	0	194	c.118T>G	c.(118-120)Tcc>Gcc	p.S40A		NM_004093	NP_004084	P52799	EFNB2_HUMAN	Homo sapiens ephrin-B2 (EFNB2), mRNA.	40					cell differentiation|cell-cell signaling|interspecies interaction between organisms|nervous system development	integral to plasma membrane	ephrin receptor binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					ACTTACTTGGAGTTCGAGGAA	0.597												
COL4A2	1284	broad.mit.edu	37	13	111134945	111134945	+	Silent	SNP	C	C	T			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr13:111134945C>T	uc001vqx.3	+	31	3130	c.2841C>T	c.(2839-2841)ggC>ggT	p.G947G		NM_001846	NP_001837	P08572	CO4A2_HUMAN	Homo sapiens collagen, type IV, alpha 2 (COL4A2), mRNA.	947	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			GGAGCAAAGGCGAGGCTGGAT	0.527												
KLHL28	54813	broad.mit.edu	37	14	45415013	45415013	+	Missense_Mutation	SNP	C	C	A			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr14:45415013C>A	uc001wvq.3	-	1	365	c.119G>T	c.(118-120)cGa>cTa	p.R40L	KLHL28_uc001wvr.3_Missense_Mutation_p.R40L|KLHL28_uc001wvt.4_Missense_Mutation_p.R40L	NM_017658	NP_060128	Q9NXS3	KLH28_HUMAN	Homo sapiens kelch-like 28 (Drosophila) (KLHL28), mRNA.	40	BTB.									breast(2)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						ATCACCTACTCGAAGAATGAT	0.428												
DLGAP5	9787	broad.mit.edu	37	14	55650334	55650334	+	Missense_Mutation	SNP	C	C	G			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr14:55650334C>G	uc001xbs.3	-	2	593	c.376G>C	c.(376-378)Gat>Cat	p.D126H	DLGAP5_uc001xbt.3_Missense_Mutation_p.D126H	NM_014750	NP_055565	Q15398	DLGP5_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 5 (DLGAP5), transcript variant 1, mRNA.	126					cell proliferation|cell-cell signaling|mitotic chromosome movement towards spindle pole|positive regulation of mitotic metaphase/anaphase transition	nucleus|spindle pole centrosome	phosphoprotein phosphatase activity|protein binding			biliary_tract(1)|breast(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	44						CAAGGCATATCAGGTCTATAA	0.323												
KCNK10	54207	broad.mit.edu	37	14	88654322	88654322	+	Missense_Mutation	SNP	T	T	C			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr14:88654322T>C	uc001xwm.3	-	5	1122	c.1000A>G	c.(1000-1002)Aca>Gca	p.T334A	KCNK10_uc001xwn.3_Missense_Mutation_p.T334A|KCNK10_uc001xwo.3_Missense_Mutation_p.T329A	NM_138318	NP_612191	P57789	KCNKA_HUMAN	Homo sapiens potassium channel, subfamily K, member 10 (KCNK10), transcript variant 3, mRNA.	329					signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						TCTTCTTTTGTCTTTTTGGAC	0.493												
C15orf52	388115	broad.mit.edu	37	15	40629935	40629935	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr15:40629935C>T	uc001zlh.4	-	5	821	c.805G>A	c.(805-807)Gcc>Acc	p.A269T	C15orf52_uc001zli.1_Missense_Mutation_p.A201T|C15orf52_uc010ucn.2_Missense_Mutation_p.A59T	NM_207380	NP_997263	Q6ZUT6	CO052_HUMAN	Homo sapiens chromosome 15 open reading frame 52 (C15orf52), mRNA.	269										central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	19		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841)		GTGGACTTGGCCTTGTCCAGG	0.701												
CYP11A1	1583	broad.mit.edu	37	15	74636252	74636252	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr15:74636252G>A	uc002axt.2	-	3	862	c.707C>T	c.(706-708)gCc>gTc	p.A236V	CYP11A1_uc002axs.2_Missense_Mutation_p.A78V|CYP11A1_uc010bjm.1_Missense_Mutation_p.A78V|CYP11A1_uc010bjn.1_Intron|CYP11A1_uc010bjp.1_Non-coding_Transcript|CYP11A1_uc010ulj.1_Missense_Mutation_p.A16V	NM_000781	NP_001093243	P05108	CP11A_HUMAN	Homo sapiens cytochrome P450, family 11, subfamily A, polypeptide 1 (CYP11A1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	236					C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process	mitochondrial matrix	cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108)	CTGGTAGATGGCATCAATGAA	0.572												
HAPLN3	145864	broad.mit.edu	37	15	89421300	89421300	+	Silent	SNP	C	C	T			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr15:89421300C>T	uc002bnd.3	-	5	1251	c.1170G>A	c.(1168-1170)ccG>ccA	p.P390P	HAPLN3_uc002bnc.3_Silent_p.P328P|HAPLN3_uc002bne.3_Non-coding_Transcript	NM_178232	NP_839946	Q96S86	HPLN3_HUMAN	Homo sapiens hyaluronan and proteoglycan link protein 3 (HAPLN3), mRNA.	328					cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	17	Lung NSC(78;0.0392)|all_lung(78;0.077)					AGTTAGGATGCGGGTGAACCA	0.642												
CASKIN1	57524	broad.mit.edu	37	16	2231462	2231462	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr16:2231462G>A	uc010bsg.1	-	17	1939	c.1907C>T	c.(1906-1908)cCg>cTg	p.P636L		NM_020764	NP_065815	Q8WXD9	CSKI1_HUMAN	Homo sapiens CASK interacting protein 1 (CASKIN1), mRNA.	636					signal transduction	cytoplasm				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						GGGCTCAGGCGGGGGCGGCGA	0.657												
DNAH3	55567	broad.mit.edu	37	16	21080807	21080807	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr16:21080807C>T	uc010vbe.2	-	22	3310	c.3310G>A	c.(3310-3312)Gcc>Acc	p.A1104T		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	1104	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GGCATCTGGGCTATGATGTCC	0.428												
ITGAX	3687	broad.mit.edu	37	16	31382999	31382999	+	Missense_Mutation	SNP	G	G	A	rs146647978	byFrequency	TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr16:31382999G>A	uc002ebt.3	+	16	2121	c.2054G>A	c.(2053-2055)cGc>cAc	p.R685H	ITGAX_uc002ebu.1_Missense_Mutation_p.R685H	NM_000887	NP_000878	P20702	ITAX_HUMAN	Homo sapiens integrin, alpha X (complement component 3 receptor 4 subunit) (ITGAX), mRNA.	685					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity	p.R685H(4)|p.R685C(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						GACCCTGGCCGCCTGAGTCCC	0.607												
PDP2	57546	broad.mit.edu	37	16	66918530	66918530	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr16:66918530G>A	uc021tjw.1	+	0	343	c.343G>A	c.(343-345)Gct>Act	p.A115T	PDP2_uc002eqk.2_Missense_Mutation_p.A115T	NM_020786	NP_065837	Q9P2J9	PDP2_HUMAN	Homo sapiens pyruvate dehyrogenase phosphatase catalytic subunit 2 (PDP2), mRNA.	115					pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|protein serine/threonine phosphatase complex	[pyruvate dehydrogenase (lipoamide)] phosphatase activity|metal ion binding			kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204)		CAACCAGCTGGCTGCCAATTC	0.522												
NF1	4763	broad.mit.edu	37	17	29541476	29541476	+	Frame_Shift_Del	DEL	C	C	-			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr17:29541476delC	uc002hgg.3	+	12	1783	c.1400delC	c.(1399-1401)acafs	p.T467fs	NF1_uc002hge.2_Frame_Shift_Del_p.T467fs|NF1_uc002hgf.2_Frame_Shift_Del_p.T467fs|NF1_uc002hgh.3_Frame_Shift_Del_p.T467fs|NF1_uc010csn.2_Frame_Shift_Del_p.T327fs	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	467					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(5)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TAGAGTCTTACATTTAAAGAA	0.289			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)		
NF1	4763	broad.mit.edu	37	17	29652976	29652979	+	Frame_Shift_Del	DEL	TCTC	TCTC	-			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr17:29652976_29652979delTCTC	uc002hgg.3	+	36	5357_5360	c.4974_4977delTCTC	c.(4972-4977)tttctcfs	p.F1658fs	NF1_uc002hgh.3_Frame_Shift_Del_p.F1637fs|NF1_uc002hgi.1_Frame_Shift_Del_p.F670fs|NF1_uc010cso.3_5'UTR	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	1658	CRAL-TRIO.				actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(3)|p.S1660fs*37(2)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		AAACAGACTTTCTCTCTAAGTGGT	0.422			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)		
KRTAP4-7	100132476	broad.mit.edu	37	17	39240729	39240729	+	Missense_Mutation	SNP	A	A	G	rs148949542	by1000genomes	TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr17:39240729A>G	uc010wfn.2	+	0	271	c.271A>G	c.(271-273)Atg>Gtg	p.M91V		NM_033061	NP_149050			Homo sapiens keratin associated protein 4-7 (KRTAP4-7), mRNA.											NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						cagctgctgtatgtccagctg	0.677												
KRTAP4-11	653240	broad.mit.edu	37	17	39274150	39274150	+	Missense_Mutation	SNP	T	T	A			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr17:39274150T>A	uc002hvz.3	-	0	457	c.418A>T	c.(418-420)Agc>Tgc	p.S140C		NM_033059	NP_149048	Q9BYQ6	KR411_HUMAN	Homo sapiens keratin associated protein 4-11 (KRTAP4-11), mRNA.	140	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament		p.S140C(4)|p.C139F(1)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			ctggagatgctgcagctgggg	0.672												
RNF43	54894	broad.mit.edu	37	17	56435337	56435337	+	Missense_Mutation	SNP	T	T	G			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr17:56435337T>G	uc002iwf.3	-	7	3756	c.1800A>C	c.(1798-1800)agA>agC	p.R600S	RNF43_uc010wnv.2_Missense_Mutation_p.R559S|RNF43_uc002iwh.4_Missense_Mutation_p.R600S|RNF43_uc002iwg.4_Missense_Mutation_p.R600S|RNF43_uc010dcw.3_Missense_Mutation_p.R473S	NM_017763	NP_060233	Q68DV7	RNF43_HUMAN	Homo sapiens ring finger protein 43 (RNF43), mRNA.	600	Pro-rich.			R -> G (in Ref. 1; BAD51435 and 2; BAA91085).		endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CTGAGTTGGATCTGGTGACTT	0.657												
RGS9	8787	broad.mit.edu	37	17	63173876	63173876	+	Silent	SNP	C	C	T	rs61739619		TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr17:63173876C>T	uc002jfe.3	+	8	812	c.609C>T	c.(607-609)taC>taT	p.Y203Y	RGS9_uc021ubw.1_Silent_p.Y203Y|RGS9_uc010dem.3_Silent_p.Y203Y|RGS9_uc002jfd.3_Silent_p.Y203Y	NM_003835	NP_003826	O75916	RGS9_HUMAN	Homo sapiens regulator of G-protein signaling 9 (RGS9), transcript variant 1, mRNA.	203					intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						TGCTGGACTACGGCCTGGACC	0.488												
CDH7	1005	broad.mit.edu	37	18	63489429	63489429	+	Silent	SNP	A	A	G			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr18:63489429A>G	uc002lkb.3	+	4	1164	c.738A>G	c.(736-738)acA>acG	p.T246T	CDH7_uc002ljz.3_Silent_p.T246T|CDH7_uc002lka.3_Silent_p.T246T	NM_004361	NP_387450	Q9ULB5	CADH7_HUMAN	Homo sapiens cadherin 7, type 2 (CDH7), transcript variant b, mRNA.	246	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				CAGGAACTACATCAGTCACTG	0.433												
ZNF407	55628	broad.mit.edu	37	18	72775604	72775604	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr18:72775604C>T	uc002llw.2	+	7	5980	c.5927C>T	c.(5926-5928)tCg>tTg	p.S1976L		NM_017757	NP_060227	Q9C0G0	ZN407_HUMAN	Homo sapiens zinc finger protein 407 (ZNF407), transcript variant 1, mRNA.	1976					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		TTAAACCTCTCGGAGGCTGGA	0.617												
ZNF77	58492	broad.mit.edu	37	19	2933851	2933851	+	Missense_Mutation	SNP	A	A	G			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr19:2933851A>G	uc002lws.4	-	3	1405	c.1274T>C	c.(1273-1275)aTc>aCc	p.I425T		NM_021217	NP_067040	Q15935	ZNF77_HUMAN	Homo sapiens zinc finger protein 77 (ZNF77), mRNA.	425					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)	17				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)|GBM - Glioblastoma multiforme(1328;2.11e-07)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.174)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTCACGTGGATTCGAAGGGA	0.502												
MAG	4099	broad.mit.edu	37	19	35804318	35804318	+	Silent	SNP	G	G	A			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr19:35804318G>A	uc002nyy.2	+	10	2040	c.1842G>A	c.(1840-1842)acG>acA	p.T614T	MAG_uc002nyx.2_3'UTR|MAG_uc010eds.2_Silent_p.T589T|MAG_uc002nyz.2_Silent_p.T614T	NM_002361	NP_001186145	P20916	MAG_HUMAN	Homo sapiens myelin associated glycoprotein (MAG), transcript variant 1, mRNA.	614				T -> S (in Ref. 2).	blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			ACACGCTGACGGAGGAGCTAG	0.657												
IL4I1	259307	broad.mit.edu	37	19	50392981	50392981	+	Silent	SNP	T	T	G			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr19:50392981T>G	uc002pqv.2	-	10	2506	c.1677A>C	c.(1675-1677)ccA>ccC	p.P559P	IL4I1_uc002pqt.1_Silent_p.P550P|IL4I1_uc021uxy.1_Silent_p.P572P|IL4I1_uc002pqu.2_Silent_p.P572P|IL4I1_uc010eno.2_Silent_p.P558P	NM_152899	NP_690863	Q96RQ9	OXLA_HUMAN	Homo sapiens interleukin 4 induced 1 (IL4I1), transcript variant 1, mRNA.	550						lysosome	L-amino-acid oxidase activity			endometrium(3)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00245)|OV - Ovarian serous cystadenocarcinoma(262;0.0169)		GGCCTTGGACTGGAGGGTGGC	0.602												
ADD2	119	broad.mit.edu	37	2	70901894	70901894	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr2:70901894C>T	uc021vjc.1	-	13	1922	c.1657G>A	c.(1657-1659)Gtg>Atg	p.V553M	ADD2_uc010fds.2_Non-coding_Transcript|ADD2_uc002sgy.3_Missense_Mutation_p.V553M|ADD2_uc002sgz.3_Missense_Mutation_p.V553M|ADD2_uc010fdt.2_Missense_Mutation_p.V553M	NM_001185054	NP_001608	P35612	ADDB_HUMAN	Homo sapiens adducin 2 (beta) (ADD2), transcript variant 5, mRNA.	553					actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						GGGTTGGGCACCGTCTCCTCT	0.507												
TTN	7273	broad.mit.edu	37	2	179446906	179446906	+	Missense_Mutation	SNP	T	T	C			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr2:179446906T>C	uc021vsy.1	-	263	58711	c.58486A>G	c.(58486-58488)Att>Gtt	p.I19496V	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.I13191V|TTN_uc021vta.1_Missense_Mutation_p.I13124V|TTN_uc021vtb.1_Missense_Mutation_p.I12999V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	20423	Fibronectin type-III 41.						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)			ATGTTGCTAATAACAGGAGGA	0.418												
PLCB1	23236	broad.mit.edu	37	20	8628555	8628559	+	Frame_Shift_Del	DEL	AACTT	AACTT	-			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr20:8628555_8628559delAACTT	uc002wnb.3	+	5	476_480	c.473_477delAACTT	c.(472-477)aaacttfs	p.K158fs	PLCB1_uc010zrb.1_Frame_Shift_Del_p.K57fs|PLCB1_uc010gbv.1_Frame_Shift_Del_p.K158fs|PLCB1_uc002wmz.1_Frame_Shift_Del_p.K158fs|PLCB1_uc002wna.3_Frame_Shift_Del_p.K158fs|PLCB1_uc002wnc.1_Frame_Shift_Del_p.K57fs	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN	Homo sapiens phospholipase C, beta 1 (phosphoinositide-specific) (PLCB1), transcript variant 1, mRNA.	158					activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						AGCTATACTAAACTTAAGCTGCAAG	0.332												
SSTR4	6754	broad.mit.edu	37	20	23016341	23016341	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr20:23016341G>A	uc002wsr.2	+	0	285	c.221G>A	c.(220-222)cGc>cAc	p.R74H		NM_001052	NP_001043	P31391	SSR4_HUMAN	Homo sapiens somatostatin receptor 4 (SSTR4), mRNA.	74					G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GTGATCCTTCGCTACGCCAAG	0.642												
EIF2S2	8894	broad.mit.edu	37	20	32677582	32677582	+	Missense_Mutation	SNP	T	T	C			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr20:32677582T>C	uc002xaf.3	-	8	1125	c.956A>G	c.(955-957)cAg>cGg	p.Q319R		NM_003908	NP_003899	P20042	IF2B_HUMAN	Homo sapiens eukaryotic translation initiation factor 2, subunit 2 beta, 38kDa (EIF2S2), mRNA.	319						cytosol|eukaryotic translation initiation factor 2 complex	metal ion binding|protein binding|translation initiation factor activity	p.F318L(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	11						CGTGACAGCCTGGAAGCCGGT	0.483												
SLC12A5	57468	broad.mit.edu	37	20	44673744	44673744	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr20:44673744G>A	uc010zxl.1	+	11	1679	c.1603G>A	c.(1603-1605)Gcc>Acc	p.A535T	SLC12A5_uc010zxm.1_Intron|SLC12A5_uc002xrb.2_Missense_Mutation_p.A512T	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporter), member 5 (SLC12A5), transcript variant 1, mRNA.	535					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	CCTGCTGCAGGCCATCTCGAG	0.632												
TUBB1	81027	broad.mit.edu	37	20	57599544	57599544	+	Silent	SNP	C	C	T			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr20:57599544C>T	uc002yak.3	+	3	1331	c.1062C>T	c.(1060-1062)tgC>tgT	p.C354C		NM_030773	NP_110400	Q9H4B7	TBB1_HUMAN	Homo sapiens tubulin, beta 1 class VI (TUBB1), mRNA.	354					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|skin(2)	16	all_lung(29;0.00711)		Colorectal(105;0.109)		Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309)	TGGCTGTCTGCGACATCCCGC	0.567												
DGCR8	54487	broad.mit.edu	37	22	20074008	20074008	+	Missense_Mutation	SNP	A	A	G			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr22:20074008A>G	uc002zri.3	+	1	951	c.522A>G	c.(520-522)atA>atG	p.I174M	DGCR8_uc010grz.3_Missense_Mutation_p.I174M|DGCR8_uc002zrj.3_5'Flank	NM_022720	NP_073557	Q8WYQ5	DGCR8_HUMAN	Homo sapiens DiGeorge syndrome critical region gene 8 (DGCR8), transcript variant 1, mRNA.	174	Necessary for interaction with NCL.|Necessary for nuclear localization and retention.		I -> V (in dbSNP:rs35987994).		primary miRNA processing	cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding			NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	Colorectal(54;0.0993)					GGGTAGGCATAGGGGGTGAGA	0.552												
LZTR1	8216	broad.mit.edu	37	22	21340179	21340179	+	Missense_Mutation	SNP	T	T	C			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr22:21340179T>C	uc002zto.3	+	2	416	c.313T>C	c.(313-315)Tgg>Cgg	p.W105R	LZTR1_uc002ztn.3_Missense_Mutation_p.W64R|LZTR1_uc011ahy.2_Intron|LZTR1_uc010gsr.1_5'Flank	NM_006767	NP_006758	Q8N653	LZTR1_HUMAN	Homo sapiens leucine-zipper-like transcription regulator 1 (LZTR1), mRNA.	105					anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity	p.W105L(1)		breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			AGACTGCTCCTGGTGCAGGTG	0.582												
OR5H2	79310	broad.mit.edu	37	3	98002586	98002586	+	Silent	SNP	C	C	T			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr3:98002586C>T	uc003dsj.1	+	0	855	c.855C>T	c.(853-855)atC>atT	p.I285I		NM_001005482	NP_001005482	Q8NGV7	OR5H2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 2 (OR5H2), mRNA.	285					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	24						TTTATACAATCATAATTCCTT	0.328												
HCLS1	3059	broad.mit.edu	37	3	121350755	121350755	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr3:121350755G>A	uc003eeh.4	-	13	1524	c.1399C>T	c.(1399-1401)Cgg>Tgg	p.R467W	HCLS1_uc011bjj.2_Missense_Mutation_p.R430W	NM_005335	NP_005326	P14317	HCLS1_HUMAN	Homo sapiens hematopoietic cell-specific Lyn substrate 1 (HCLS1), mRNA.	467	SH3.				erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus	mitochondrion|nucleus|plasma membrane	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.0912)		CAACGTCCCCGCCACCAGCCC	0.507												
GOLGB1	2804	broad.mit.edu	37	3	121413146	121413146	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr3:121413146C>T	uc010hrc.3	-	12	6350	c.6224G>A	c.(6223-6225)cGc>cAc	p.R2075H	GOLGB1_uc003eei.4_Missense_Mutation_p.R2070H|GOLGB1_uc003eej.4_Missense_Mutation_p.R2036H|GOLGB1_uc021xcy.1_Missense_Mutation_p.R1995H|GOLGB1_uc011bjm.1_Missense_Mutation_p.R1956H|GOLGB1_uc010hrd.1_Missense_Mutation_p.R2034H	NM_004487	NP_004478	Q14789	GOGB1_HUMAN	Homo sapiens golgin B1 (GOLGB1), mRNA.	2070					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TGCCTTTTTGCGGTGTTCAAC	0.403												
ABTB1	80325	broad.mit.edu	37	3	127396603	127396603	+	Missense_Mutation	SNP	G	G	T			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr3:127396603G>T	uc003ejt.3	+	9	1034	c.946G>T	c.(946-948)Ggc>Tgc	p.G316C	ABTB1_uc003ejr.3_Missense_Mutation_p.G174C|ABTB1_uc003ejs.3_Missense_Mutation_p.G291C|ABTB1_uc003eju.3_Missense_Mutation_p.G174C|ABTB1_uc010hsm.3_Missense_Mutation_p.G43C	NM_172027	NP_742024	Q969K4	ABTB1_HUMAN	Homo sapiens ankyrin repeat and BTB (POZ) domain containing 1 (ABTB1), transcript variant 2, mRNA.	316	BTB 2.					cytoplasm|nucleolus|plasma membrane	translation elongation factor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	10						GACCTCAGGGGGCCCCCCAGC	0.642												
EPHB1	2047	broad.mit.edu	37	3	134967277	134967277	+	Silent	SNP	G	G	A			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr3:134967277G>A	uc003eqt.3	+	13	2991	c.2616G>A	c.(2614-2616)gcG>gcA	p.A872A	EPHB1_uc003equ.3_Silent_p.A433A	NM_004441	NP_004432	P54762	EPHB1_HUMAN	Homo sapiens EPH receptor B1 (EPHB1), mRNA.	872	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	p.A872G(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						CCCGGTTTGCGGAGATTGTCA	0.582												
ZIC4	84107	broad.mit.edu	37	3	147108751	147108751	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr3:147108751G>A	uc011bno.2	-	3	1307	c.1121C>T	c.(1120-1122)gCg>gTg	p.A374V	ZIC4_uc021xfc.1_Non-coding_Transcript|ZIC4_uc021xfd.1_Non-coding_Transcript|ZIC4_uc021xfe.1_Non-coding_Transcript|ZIC4_uc003ewc.2_Missense_Mutation_p.A254V|ZIC4_uc021xff.1_Missense_Mutation_p.A362V|ZIC4_uc003ewd.2_Missense_Mutation_p.A324V|ZIC4_uc021xfg.1_Missense_Mutation_p.A118V	NM_001168378	NP_115529	Q8N9L1	ZIC4_HUMAN	Homo sapiens Zic family member 4 (ZIC4), transcript variant 1, mRNA.	324						nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						CGCCGCCACCGCCGCCGAGGA	0.706												
GAK	2580	broad.mit.edu	37	4	864620	864620	+	Silent	SNP	C	C	T			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr4:864620C>T	uc003gbm.4	-	18	2326	c.2127G>A	c.(2125-2127)gtG>gtA	p.V709V	GAK_uc003gbn.4_Silent_p.V630V|GAK_uc010ibk.1_Silent_p.V603V|GAK_uc010ibj.3_Non-coding_Transcript|GAK_uc003gbl.4_Silent_p.V573V	NM_005255	NP_005246	O14976	GAK_HUMAN	Homo sapiens cyclin G associated kinase (GAK), mRNA.	709	C2 tensin-type.				cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		CCCTGGGCTCCACCTCCACTT	0.557												
ATP8A1	10396	broad.mit.edu	37	4	42505527	42505527	+	Missense_Mutation	SNP	G	G	C			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr4:42505527G>C	uc003gwr.2	-	23	2323	c.2091C>G	c.(2089-2091)caC>caG	p.H697Q	ATP8A1_uc003gwq.2_5'UTR|ATP8A1_uc003gws.2_Missense_Mutation_p.H682Q	NM_006095	NP_006086	Q9Y2Q0	AT8A1_HUMAN	Homo sapiens ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1 (ATP8A1), transcript variant 1, mRNA.	697					ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	GTTTGCAGGAGTGTCCTGTAT	0.274												
SLC4A4	8671	broad.mit.edu	37	4	72316924	72316924	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr4:72316924G>A	uc010iic.3	+	10	1345	c.1228G>A	c.(1228-1230)Gga>Aga	p.G410R	SLC4A4_uc003hfy.3_Missense_Mutation_p.G410R|SLC4A4_uc010iib.3_Missense_Mutation_p.G410R|SLC4A4_uc003hfz.3_Missense_Mutation_p.G410R|SLC4A4_uc003hgc.4_Missense_Mutation_p.G366R|SLC4A4_uc010iid.3_5'UTR|SLC4A4_uc003hga.2_Missense_Mutation_p.G288R|SLC4A4_uc003hgb.3_Missense_Mutation_p.G366R	NM_001134742	NP_001128214	Q9Y6R1	S4A4_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 4 (SLC4A4), transcript variant 3, mRNA.	410						basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			GTACTCAGGTGGAGAGAATGT	0.443												
PPEF2	5470	broad.mit.edu	37	4	76797562	76797562	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr4:76797562G>A	uc003hix.3	-	10	1555	c.1198C>T	c.(1198-1200)Cgg>Tgg	p.R400W	PPEF2_uc003hiy.3_Non-coding_Transcript|PPEF2_uc003hiz.1_Missense_Mutation_p.R400W	NM_006239	NP_006230	O14830	PPE2_HUMAN	Homo sapiens protein phosphatase, EF-hand calcium binding domain 2 (PPEF2), mRNA.	400	Catalytic.				detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TGCCGGCACCGCTCTAGCTCC	0.667												
SHROOM3	57619	broad.mit.edu	37	4	77661370	77661370	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr4:77661370C>T	uc011cbx.2	+	4	2997	c.2044C>T	c.(2044-2046)Cgg>Tgg	p.R682W	SHROOM3_uc011cbz.1_Missense_Mutation_p.R506W|SHROOM3_uc003hkf.1_Missense_Mutation_p.R557W|SHROOM3_uc003hkg.3_Missense_Mutation_p.R460W	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	Homo sapiens shroom family member 3 (SHROOM3), mRNA.	682					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			GGAGCTAGGCCGGGGAACCCA	0.607												
FAM190A	401145	broad.mit.edu	37	4	91321221	91321221	+	Missense_Mutation	SNP	A	A	G			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr4:91321221A>G	uc003hsv.4	+	3	1884	c.1544A>G	c.(1543-1545)gAt>gGt	p.D515G	FAM190A_uc010ikv.2_Non-coding_Transcript|FAM190A_uc003hsw.3_Missense_Mutation_p.D515G	NM_001145065	NP_001138537	Q9C0I3	F190A_HUMAN	Homo sapiens family with sequence similarity 190, member A (FAM190A), transcript variant 1, mRNA.	515										NS(2)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22						TGTGAACTGGATGAAGATGAT	0.333												
CTNND2	1501	broad.mit.edu	37	5	11565132	11565132	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr5:11565132C>T	uc003jfa.1	-	2	356	c.211G>A	c.(211-213)Gct>Act	p.A71T	CTNND2_uc010itt.2_5'UTR|CTNND2_uc011cmy.1_5'UTR|CTNND2_uc011cmz.1_5'UTR|CTNND2_uc010itu.1_Non-coding_Transcript	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	Homo sapiens catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein) (CTNND2), mRNA.	71					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						TGCCGTTCAGCCTCCAGCTCT	0.502												
PIK3R1	5295	broad.mit.edu	37	5	67591125	67591125	+	Missense_Mutation	SNP	T	T	C			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr5:67591125T>C	uc003jva.3	+	12	2298	c.1718T>C	c.(1717-1719)cTg>cCg	p.L573P	PIK3R1_uc003jvc.3_Missense_Mutation_p.L273P|PIK3R1_uc003jvd.3_Missense_Mutation_p.L303P|PIK3R1_uc003jve.3_Missense_Mutation_p.L252P|PIK3R1_uc021xzn.1_Missense_Mutation_p.L210P|PIK3R1_uc011crb.2_Missense_Mutation_p.L243P	NM_181523	NP_852664	P27986	P85A_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	573					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.L573P(4)|p.L570_D578del(2)|p.L303P(2)|p.L273P(2)|p.0?(1)|p.?(1)|p.L570_Q572del(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	CTTATCCAGCTGAGAAAGACG	0.383			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)		
PRR16	51334	broad.mit.edu	37	5	120021968	120021968	+	Missense_Mutation	SNP	C	C	A			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr5:120021968C>A	uc003ksq.3	+	1	642	c.479C>A	c.(478-480)cCa>cAa	p.P160Q	PRR16_uc003ksp.3_Missense_Mutation_p.P137Q|PRR16_uc003ksr.3_Missense_Mutation_p.P90Q	NM_016644	NP_057728	Q569H4	PRR16_HUMAN	Homo sapiens proline rich 16 (PRR16), mRNA.	160	Pro-rich.							p.P137Q(1)		endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0464)|Prostate(80;0.00446)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)		GGAGGCTTACCAGGTGGACCT	0.468												
SGCD	6444	broad.mit.edu	37	5	156186311	156186311	+	Silent	SNP	C	C	T			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr5:156186311C>T	uc003lwc.4	+	8	1302	c.783C>T	c.(781-783)ttC>ttT	p.F261F	SGCD_uc003lwd.4_Silent_p.F260F	NM_000337	NP_001121681	Q92629	SGCD_HUMAN	Homo sapiens sarcoglycan, delta (35kDa dystrophin-associated glycoprotein) (SGCD), transcript variant 1, mRNA.	260			E -> K (in LGMD2F).		cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma		p.F261L(2)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|prostate(1)	24	Renal(175;0.00488)	Medulloblastoma(196;0.0378)|all_neural(177;0.106)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AGAAGGTCTTCGAGATCTGCG	0.488												
ADAMTS2	9509	broad.mit.edu	37	5	178552111	178552111	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr5:178552111G>A	uc003mjw.3	-	18	2923	c.2821C>T	c.(2821-2823)Cgc>Tgc	p.R941C		NM_014244	NP_055059	O95450	ATS2_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 2 (ADAMTS2), transcript variant 1, mRNA.	941	TSP type-1 3.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.R941H(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		TGAATGCAGCGCACGGAGCGC	0.692												
GMDS	2762	broad.mit.edu	37	6	1930436	1930436	+	Silent	SNP	G	G	A			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr6:1930436G>A	uc003mtq.3	-	6	884	c.672C>T	c.(670-672)agC>agT	p.S224S	GMDS_uc021ykn.1_Silent_p.S194S	NM_001500	NP_001491	O60547	GMDS_HUMAN	Homo sapiens GDP-mannose 4,6-dehydratase (GMDS), transcript variant 1, mRNA.	224					'de novo' GDP-L-fucose biosynthetic process|GDP-mannose metabolic process|leukocyte cell-cell adhesion		coenzyme binding|GDP-mannose 4,6-dehydratase activity		GMDS/PDE8B(2)	breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|prostate(1)	21	Ovarian(93;0.0733)	all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802)		Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563)		CTACTGACCGGCTAATTTTTC	0.428												
ZSCAN23	222696	broad.mit.edu	37	6	28402496	28402496	+	Missense_Mutation	SNP	G	G	C			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr6:28402496G>C	uc003nli.4	-	3	1097	c.916C>G	c.(916-918)Cag>Gag	p.Q306E	ZSCAN23_uc003nlh.2_Non-coding_Transcript|ZSCAN23_uc010jrf.1_Non-coding_Transcript|ZSCAN23_uc011dli.2_3'UTR	NM_001012455	NP_001012458	Q3MJ62	ZSC23_HUMAN	Homo sapiens zinc finger and SCAN domain containing 23 (ZSCAN23), mRNA.	306					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|prostate(1)|stomach(2)	4						ACACTGCACTGGTAGCGCTTC	0.542												
PPP1R10	5514	broad.mit.edu	37	6	30570090	30570090	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr6:30570090C>T	uc003nqn.1	-	18	2888	c.2336G>A	c.(2335-2337)aGt>aAt	p.S779N	PPP1R10_uc010jsc.1_Missense_Mutation_p.S433N	NM_002714	NP_002705	Q96QC0	PP1RA_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 10 (PPP1R10), mRNA.	779	Gly-rich.				protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						GCGATGCCCACTTCCCATGCC	0.672												
PNISR	25957	broad.mit.edu	37	6	99856145	99856145	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr6:99856145C>T	uc003ppo.4	-	6	904	c.676G>A	c.(676-678)Gca>Aca	p.A226T	PNISR_uc003ppp.4_Missense_Mutation_p.A226T|PNISR_uc011eag.2_Missense_Mutation_p.A226T|PNISR_uc003ppr.2_Missense_Mutation_p.A226T	NM_032870	NP_116259	Q8TF01	PNISR_HUMAN	Homo sapiens PNN-interacting serine/arginine-rich protein (PNISR), transcript variant 1, mRNA.	226						nuclear speck				breast(2)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						CGTTTTACTGCGTCTGTTTCA	0.358												
ATG5	9474	broad.mit.edu	37	6	106764059	106764059	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr6:106764059G>A	uc003prf.3	-	1	378	c.25C>T	c.(25-27)Cga>Tga	p.R9*	ATG5_uc010kdb.3_Nonsense_Mutation_p.R9*|ATG5_uc003prg.3_5'UTR|ATG5_uc010kdc.3_Nonsense_Mutation_p.R9*	NM_004849	NP_004840	Q9H1Y0	ATG5_HUMAN	Homo sapiens ATG5 autophagy related 5 homolog (S. cerevisiae) (ATG5), mRNA.	9					apoptosis|autophagic vacuole assembly|negative regulation of type I interferon production|post-translational protein modification	autophagic vacuole|pre-autophagosomal structure membrane	protein binding			endometrium(1)|large_intestine(5)|lung(1)|prostate(1)	8	Breast(9;0.0296)	all_cancers(87;0.000301)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0612)|Lung NSC(302;0.216)	BRCA - Breast invasive adenocarcinoma(8;0.00802)	OV - Ovarian serous cystadenocarcinoma(136;0.128)|Epithelial(106;0.159)|all cancers(137;0.18)		CACACATCTCGAAGCACATCT	0.368												
TXLNB	167838	broad.mit.edu	37	6	139564240	139564240	+	Missense_Mutation	SNP	A	A	T			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr6:139564240A>T	uc021zfy.1	-	9	1643	c.1478T>A	c.(1477-1479)gTt>gAt	p.V493D		NM_153235	NP_694967	Q8N3L3	TXLNB_HUMAN	Homo sapiens taxilin beta (TXLNB), mRNA.	493						cytoplasm				breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)		GACACTATTAACCTCCTCTGC	0.478												
PRPS1L1	221823	broad.mit.edu	37	7	18066565	18066565	+	Missense_Mutation	SNP	T	T	C			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr7:18066565T>C	uc003stz.3	-	0	922	c.841A>G	c.(841-843)Atg>Gtg	p.M281V		NM_175886	NP_787082	P21108	PRPS3_HUMAN	Homo sapiens phosphoribosyl pyrophosphate synthetase 1-like 1 (PRPS1L1), mRNA.	281					nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)	18	Lung NSC(10;0.0385)|all_lung(11;0.0736)					CAATGCTTCATCTTCTCATCT	0.438												
PKD1L1	168507	broad.mit.edu	37	7	47867036	47867036	+	Missense_Mutation	SNP	G	G	C			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr7:47867036G>C	uc003tny.2	-	44	6800	c.6766C>G	c.(6766-6768)Ctg>Gtg	p.L2256V	C7orf69_uc003toa.1_Intron|PKD1L1_uc003tob.3_5'UTR	NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA.	2256					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						GCCCAGCGCAGGTGGCGAGCT	0.667												
CALN1	83698	broad.mit.edu	37	7	71252855	71252855	+	Missense_Mutation	SNP	C	C	T	rs144352678	by1000genomes	TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr7:71252855C>T	uc003twb.4	-	6	1082	c.691G>A	c.(691-693)Gtc>Atc	p.V231I	CALN1_uc003twa.4_Missense_Mutation_p.V189I|CALN1_uc003twc.4_Missense_Mutation_p.V189I	NM_031468	NP_001017440	Q9BXU9	CABP8_HUMAN	Homo sapiens calneuron 1 (CALN1), transcript variant 1, mRNA.	189						Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding	p.V189I(1)		biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				CTCTTCCGGACGCAGGTCTGT	0.537												
ZAN	7455	broad.mit.edu	37	7	100336230	100336230	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr7:100336230C>T	uc003uwj.3	+	6	925	c.760C>T	c.(760-762)Cct>Tct	p.P254S	ZAN_uc003uwk.3_Missense_Mutation_p.P254S|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	254	MAM 2.				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CTTCTCTAGCCCTGGTAGTGA	0.577												
OPN1SW	611	broad.mit.edu	37	7	128415497	128415497	+	Silent	SNP	T	T	A			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr7:128415497T>A	uc003vnt.4	-	0	348	c.348A>T	c.(346-348)gtA>gtT	p.V116V		NM_001708	NP_001699	P03999	OPSB_HUMAN	Homo sapiens opsin 1 (cone pigments), short-wave-sensitive (OPN1SW), mRNA.	116					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity			NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|stomach(1)	19						CAGTACCTGCTACAGTGCCCA	0.547												
TTC26	79989	broad.mit.edu	37	7	138854079	138854079	+	Silent	SNP	A	A	G			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr7:138854079A>G	uc003vus.2	+	11	1164	c.1050A>G	c.(1048-1050)ggA>ggG	p.G350G	TTC26_uc011kqn.1_Silent_p.G350G|TTC26_uc011kqo.1_Silent_p.G319G|TTC26_uc011kqp.1_Silent_p.G245G|TTC26_uc003vut.2_Silent_p.G210G|TTC26_uc011kqq.1_Silent_p.G219G	NM_024926	NP_079202	A0AVF1	TTC26_HUMAN	Homo sapiens tetratricopeptide repeat domain 26 (TTC26), transcript variant 1, mRNA.	350							binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	24						AGTTGGTGGGAGGATCAGCTA	0.368												
GIMAP1-GIMAP5	55340	broad.mit.edu	37	7	150439564	150439564	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr7:150439564G>A	uc022apw.1	+	5	1089	c.949G>A	c.(949-951)Gtc>Atc	p.V317I	GIMAP1-GIMAP5_uc003whr.2_Missense_Mutation_p.V113I	NM_001199577	NP_001186506			Homo sapiens GIMAP1-GIMAP5 readthrough (GIMAP1-GIMAP5), mRNA.																		GGGGCCCCACGTCCTGCTTCT	0.587												
PIP5K1B	8395	broad.mit.edu	37	9	71606125	71606125	+	Silent	SNP	C	C	T			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr9:71606125C>T	uc004agu.3	+	14	1877	c.1572C>T	c.(1570-1572)aaC>aaT	p.N524N	PIP5K1B_uc011lrq.2_Intron|PIP5K1B_uc004agv.3_Non-coding_Transcript	NM_003558	NP_003549	O14986	PI51B_HUMAN	Homo sapiens phosphatidylinositol-4-phosphate 5-kinase, type I, beta (PIP5K1B), transcript variant 2, mRNA.	524						endomembrane system|membrane|uropod	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding			breast(1)|large_intestine(2)|stomach(1)	4				Lung(182;0.133)		CTGAGCCCAACACTCTGGAAG	0.428												
PALM2-AKAP2	445815	broad.mit.edu	37	9	112694260	112694260	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr9:112694260C>T	uc004bei.2	+	5	640	c.448C>T	c.(448-450)Cga>Tga	p.R150*	PALM2-AKAP2_uc004beg.3_Intron|PALM2-AKAP2_uc004beh.4_Nonsense_Mutation_p.R150*|PALM2-AKAP2_uc004bej.4_Nonsense_Mutation_p.R150*|PALM2-AKAP2_uc004bek.4_Nonsense_Mutation_p.R150*|PALM2-AKAP2_uc004bel.1_Intron	NM_001136562	NP_001130034	Q9Y2D5	AKAP2_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 2 (AKAP2), transcript variant 2, mRNA.	0							enzyme binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						CCTCTGTTCACGAACAGCAGA	0.542												
SLC46A2	57864	broad.mit.edu	37	9	115652657	115652657	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr9:115652657C>T	uc004bgk.3	-	0	537	c.305G>A	c.(304-306)cGc>cAc	p.R102H		NM_033051	NP_149040	Q9BY10	TSCOT_HUMAN	Homo sapiens solute carrier family 46, member 2 (SLC46A2), mRNA.	102						integral to membrane|plasma membrane	symporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(1)	18						TCGGTGGTAGCGGTCGCTGAG	0.607												
EDA	1896	broad.mit.edu	37	X	69253319	69253319	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chrX:69253319C>T	uc004dxs.3	+	6	1107	c.865C>T	c.(865-867)Cgc>Tgc	p.R289C	EDA_uc011mpj.2_Missense_Mutation_p.R286C|EDA_uc004dxr.3_Missense_Mutation_p.R289C	NM_001399	NP_001390	Q92838	EDA_HUMAN	Homo sapiens ectodysplasin A (EDA), transcript variant 1, mRNA.	289					cell differentiation|ectoderm development|immune response|positive regulation of NF-kappaB transcription factor activity|signal transduction	collagen|cytoskeleton|membrane fraction	tumor necrosis factor receptor binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|urinary_tract(1)	14						GCTACATCCCCGCAGCGGGGA	0.498											OREG0019847	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
MCF2	4168	broad.mit.edu	37	X	138679647	138679647	+	Missense_Mutation	SNP	A	A	G			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chrX:138679647A>G	uc011mwn.1	-	20	2468	c.2462T>C	c.(2461-2463)aTg>aCg	p.M821T	MCF2_uc004fav.3_Missense_Mutation_p.M692T|MCF2_uc004fau.3_Missense_Mutation_p.M676T|MCF2_uc010nsh.2_Missense_Mutation_p.M676T|MCF2_uc011mwm.2_Missense_Mutation_p.M637T|MCF2_uc011mwl.2_Missense_Mutation_p.M653T|MCF2_uc011mwo.1_Missense_Mutation_p.M752T|MCF2_uc004faw.2_Missense_Mutation_p.M736T|Mir_548_uc022cfd.1_5'Flank	NM_001171878	NP_001165349	P10911	MCF2_HUMAN	Homo sapiens MCF.2 cell line derived transforming sequence (MCF2), transcript variant 5, mRNA.	676					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					AATCTGATGCATAGAATCATT	0.388												
