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
TNFRSF8	943	broad.mit.edu	37	1	12170201	12170201	+	Missense_Mutation	SNP	T	T	A			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr1:12170201T>A	uc001atq.3	+	5	838	c.616T>A	c.(616-618)Tct>Act	p.S206T	TNFRSF8_uc010obc.2_Missense_Mutation_p.S95T	NM_001243	NP_001234	P28908	TNR8_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 8 (TNFRSF8), transcript variant 1, mRNA.	206					cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of TRAIL biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)		GGAAGCTGCTTCTAAACTGAC	0.632												
TAS1R2	80834	broad.mit.edu	37	1	19181287	19181287	+	Missense_Mutation	SNP	C	C	T			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr1:19181287C>T	uc001bba.1	-	2	678	c.677G>A	c.(676-678)cGc>cAc	p.R226H		NM_152232	NP_689418	Q8TE23	TS1R2_HUMAN	Homo sapiens taste receptor, type 1, member 2 (TAS1R2), mRNA.	226					detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	CCGGGCCACGCGCTCGCCAAG	0.642												
CNKSR1	10256	broad.mit.edu	37	1	26515154	26515154	+	Silent	SNP	G	G	A			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr1:26515154G>A	uc001bln.4	+	18	1735	c.1677G>A	c.(1675-1677)caG>caA	p.Q559Q	CNKSR1_uc001blm.4_Silent_p.Q552Q|CNKSR1_uc009vsd.3_Silent_p.Q294Q|CNKSR1_uc009vse.3_Silent_p.Q294Q|CATSPER4_uc010oey.1_5'Flank|CATSPER4_uc010oez.2_5'Flank|CATSPER4_uc009vsf.3_5'Flank	NM_006314	NP_006305	Q969H4	CNKR1_HUMAN	Homo sapiens connector enhancer of kinase suppressor of Ras 1 (CNKSR1), transcript variant 1, mRNA.	559					Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cell cortex|cell-cell junction	protein binding, bridging			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		CCCCCACACAGCGCAGCCCAC	0.647												
ZSWIM5	57643	broad.mit.edu	37	1	45553632	45553632	+	Silent	SNP	G	G	A			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr1:45553632G>A	uc001cnd.2	-	1	1101	c.873C>T	c.(871-873)caC>caT	p.H291H		NM_020883	NP_065934	Q9P217	ZSWM5_HUMAN	Homo sapiens zinc finger, SWIM-type containing 5 (ZSWIM5), mRNA.	291							zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					CTTCAGTGTGGTGTGCCGTGA	0.393												
AK5	26289	broad.mit.edu	37	1	78001682	78001682	+	Missense_Mutation	SNP	C	C	T			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr1:78001682C>T	uc001dhn.3	+	12	1916	c.1579C>T	c.(1579-1581)Ccc>Tcc	p.P527S	AK5_uc001dho.3_Missense_Mutation_p.P501S	NM_174858	NP_036225	Q9Y6K8	KAD5_HUMAN	Homo sapiens adenylate kinase 5 (AK5), transcript variant 1, mRNA.	527					ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction	centrosome|cytosol	adenylate kinase activity|ATP binding|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						AGCGTCCATCCCCGTGATCGC	0.527												
MCOLN3	55283	broad.mit.edu	37	1	85498465	85498465	+	Missense_Mutation	SNP	C	C	T			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr1:85498465C>T	uc001dkp.3	-	5	793	c.646G>A	c.(646-648)Gtg>Atg	p.V216M	MCOLN3_uc001dkq.3_Missense_Mutation_p.V160M|MCOLN3_uc001dkr.3_Missense_Mutation_p.V216M|MCOLN3_uc001dks.4_Missense_Mutation_p.V61M	NM_018298	NP_060768	Q8TDD5	MCLN3_HUMAN	Homo sapiens mucolipin 3 (MCOLN3), transcript variant 1, mRNA.	216						integral to membrane	ion channel activity			endometrium(6)|kidney(3)|large_intestine(9)|lung(12)|prostate(3)|skin(1)	34				all cancers(265;0.00957)|Epithelial(280;0.0254)		TGAAGCTCCACTGTTAGGAGT	0.438												
KIAA0907	22889	broad.mit.edu	37	1	155887399	155887399	+	Missense_Mutation	SNP	T	T	G			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr1:155887399T>G	uc001fmi.1	-	10	1355	c.1331A>C	c.(1330-1332)cAg>cCg	p.Q444P	KIAA0907_uc001fmj.1_Missense_Mutation_p.Q444P|KIAA0907_uc009wrl.1_Non-coding_Transcript	NM_014949	NP_055764	Q7Z7F0	K0907_HUMAN	Homo sapiens KIAA0907 (KIAA0907), mRNA.	444	Pro-rich.							p.Q444P(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			gggctggggctggggGCCAGC	0.562												
INSRR	3645	broad.mit.edu	37	1	156811514	156811514	+	Missense_Mutation	SNP	C	C	T	rs139192917		TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr1:156811514C>T	uc010pht.2	-	19	3769	c.3470G>A	c.(3469-3471)cGc>cAc	p.R1157H	NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron	NM_014215	NP_055030	P14616	INSRR_HUMAN	Homo sapiens insulin receptor-related receptor (INSRR), mRNA.	1157	Protein kinase.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity	p.R1157R(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GGCCATCCAGCGCACGGGCAG	0.627												
CD1B	910	broad.mit.edu	37	1	158299678	158299678	+	Missense_Mutation	SNP	C	C	T			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr1:158299678C>T	uc001frx.3	-	2	679	c.571G>A	c.(571-573)Gtc>Atc	p.V191I	CD1B_uc001frw.3_Missense_Mutation_p.V191I	NM_001764	NP_001755	P29016	CD1B_HUMAN	Homo sapiens CD1b molecule (CD1B), mRNA.	191	Ig-like.				antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding			breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					GCATTGAGGACGCCCAAGAGA	0.438												
OR10R2	343406	broad.mit.edu	37	1	158449688	158449688	+	Missense_Mutation	SNP	C	C	G			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr1:158449688C>G	uc010pik.2	+	0	21	c.21C>G	c.(19-21)ttC>ttG	p.F7L	AK057554_uc001fso.1_Intron	NM_001004472	NP_001004472	Q8NGX6	O10R2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily R, member 2 (OR10R2), mRNA.	7					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					TTCTTATATTCACATACCTGA	0.433												
LY9	4063	broad.mit.edu	37	1	160786529	160786529	+	Silent	SNP	C	C	G			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr1:160786529C>G	uc001fwu.3	+	4	1268	c.1218C>G	c.(1216-1218)tcC>tcG	p.S406S	LY9_uc001fwv.3_Silent_p.S406S|LY9_uc001fww.3_Intron|LY9_uc001fwy.1_Intron|LY9_uc001fwz.3_Silent_p.S58S	NM_002348	NP_002339	Q9HBG7	LY9_HUMAN	Homo sapiens lymphocyte antigen 9 (LY9), transcript variant 1, mRNA.	406	Ig-like C2-type 2.				cell adhesion|immunoglobulin mediated immune response	integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			CTGTTGTGTCCCAAGGGGAAT	0.557												
CR2	1380	broad.mit.edu	37	1	207648560	207648560	+	Missense_Mutation	SNP	A	A	C			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr1:207648560A>C	uc001hfw.3	+	13	2658	c.2539_splice	c.e13+1	p.A847_splice	CR2_uc001hfv.3_Splice_Site_p.A906_splice|CR2_uc009xch.3_Splice_Site_p.E847_splice	NM_001877	NP_001868	P20023	CR2_HUMAN	Homo sapiens complement component (3d/Epstein Barr virus) receptor 2 (CR2), transcript variant 2, mRNA.	847					complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						GTATCAAAAAAGGTAAGATAC	0.398												
ATAD1	84896	broad.mit.edu	37	10	89550116	89550116	+	Silent	SNP	G	G	A			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr10:89550116G>A	uc001kez.1	-	3	712	c.333C>T	c.(331-333)atC>atT	p.I111I	ATAD1_uc010qmr.1_Silent_p.I53I|ATAD1_uc009xth.1_Non-coding_Transcript|ATAD1_uc001key.1_Silent_p.I111I	NM_032810	NP_116199	Q8NBU5	ATAD1_HUMAN	Homo sapiens ATPase family, AAA domain containing 1 (ATAD1), mRNA.	111						peroxisome	ATP binding|nucleoside-triphosphatase activity			kidney(1)|large_intestine(4)|lung(4)|ovary(1)	10		all_cancers(4;6.78e-12)|Prostate(4;3.56e-12)|all_epithelial(4;5.58e-09)|Melanoma(5;0.0273)|Breast(4;0.0424)|all_hematologic(4;0.0846)|Colorectal(252;0.207)|Glioma(4;0.217)|all_neural(4;0.224)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00131)|GBM - Glioblastoma multiforme(1;1.1e-32)|Lung(2;1.4e-05)|LUSC - Lung squamous cell carcinoma(2;2.69e-05)|Colorectal(12;7.09e-05)|COAD - Colon adenocarcinoma(12;0.000261)|STAD - Stomach adenocarcinoma(243;0.235)		GTTTCTTTTTGATAGGTAAGA	0.358												
MGEA5	10724	broad.mit.edu	37	10	103557792	103557792	+	Nonsense_Mutation	SNP	A	A	C			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr10:103557792A>C	uc001ktv.2	-	9	2372	c.1929T>G	c.(1927-1929)taT>taG	p.Y643*	MGEA5_uc001ktu.2_Non-coding_Transcript|MGEA5_uc010qqe.1_Nonsense_Mutation_p.Y590*|MGEA5_uc009xws.2_Nonsense_Mutation_p.Y590*|MGEA5_uc001ktw.2_Nonsense_Mutation_p.Y643*	NM_012215	NP_036347	O60502	NCOAT_HUMAN	Homo sapiens meningioma expressed antigen 5 (hyaluronidase) (MGEA5), transcript variant 1, mRNA.	643	Histone acetyltransferase activity (By similarity).				glycoprotein catabolic process	cytoplasm|nucleus	histone acetyltransferase activity|hyalurononglucosaminidase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	23		Colorectal(252;0.207)		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)		TATCCCAAACATAGGAGTACA	0.418												
DUX4L3	653544	broad.mit.edu	37	10	135491125	135491125	+	Missense_Mutation	SNP	G	G	A	rs140402194	by1000genomes	TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr10:135491125G>A	uc021qbj.1	+						DUX4L3_uc010qvh.1_Missense_Mutation_p.A246T|DUX4L3_uc021qbi.1_5'UTR	NM_012147	NP_036279	F5GZ66	F5GZ66_HUMAN	Homo sapiens double homeobox 2 (DUX2), mRNA.							nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity										CCACACCGGCGCGTGGGGAAC	0.781												
OR51B6	390058	broad.mit.edu	37	11	5373426	5373426	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr11:5373426G>A	uc010qzb.2	+	0	689	c.689G>A	c.(688-690)gGa>gAa	p.G230E	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001004750	NP_001004750	Q9H340	O51B6_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily B, member 6 (OR51B6), mRNA.	230					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G230G(1)		central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	21		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGTTCTGGAGGAGAAAGGGCC	0.418												
MICAL2	9645	broad.mit.edu	37	11	12225971	12225971	+	Missense_Mutation	SNP	G	G	T			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr11:12225971G>T	uc001mjz.3	+	3	727	c.439G>T	c.(439-441)Ggg>Tgg	p.G147W	MICAL2_uc010rch.1_Missense_Mutation_p.G147W|MICAL2_uc001mjy.3_Missense_Mutation_p.G147W|MICAL2_uc001mka.3_Missense_Mutation_p.G147W|MICAL2_uc010rci.2_Missense_Mutation_p.G147W|MICAL2_uc001mkb.3_Missense_Mutation_p.G147W|MICAL2_uc001mkc.3_Missense_Mutation_p.G147W	NM_014632	NP_055447	O94851	MICA2_HUMAN	Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 2 (MICAL2), mRNA.	147						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		GAAGTTCTATGGGAAGTTCTG	0.552												
KCNC1	3746	broad.mit.edu	37	11	17757795	17757795	+	Silent	SNP	G	G	T			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr11:17757795G>T	uc009yhc.1	+	0	301	c.246G>T	c.(244-246)gtG>gtT	p.V82V	KCNC1_uc001mnk.4_Silent_p.V82V	NM_001112741	NP_001106212	P48547	KCNC1_HUMAN	Homo sapiens potassium voltage-gated channel, Shaw-related subfamily, member 1 (KCNC1), transcript variant A, mRNA.	82						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						CAGCCGACGTGTGCGGGCCGC	0.677												
UEVLD	55293	broad.mit.edu	37	11	18554017	18554017	+	Silent	SNP	A	A	G			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr11:18554017A>G	uc001mot.3	-	11	1346	c.1266T>C	c.(1264-1266)aaT>aaC	p.N422N	UEVLD_uc001mou.3_3'UTR|UEVLD_uc010rde.2_Silent_p.N292N|UEVLD_uc010rdf.2_Silent_p.N400N|UEVLD_uc010rdg.2_Silent_p.N292N|UEVLD_uc001mov.3_3'UTR	NM_001040697	NP_001035787	Q8IX04	UEVLD_HUMAN	Homo sapiens UEV and lactate/malate dehyrogenase domains (UEVLD), transcript variant 1, mRNA.	422					cellular carbohydrate metabolic process|protein modification process|protein transport		binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						ACACTTCACTATTTATATCAT	0.313												
QSER1	79832	broad.mit.edu	37	11	32955067	32955067	+	Missense_Mutation	SNP	C	C	G			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr11:32955067C>G	uc001mty.3	+	3	2143	c.1876C>G	c.(1876-1878)Ctg>Gtg	p.L626V	QSER1_uc001mtz.1_Missense_Mutation_p.L387V|QSER1_uc001mua.3_Missense_Mutation_p.L131V	NM_001076786	NP_001070254	Q2KHR3	QSER1_HUMAN	Homo sapiens glutamine and serine rich 1 (QSER1), mRNA.	626										breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					TGGGGTTGCTCTGCAAGCATC	0.378												
OR5A1	219982	broad.mit.edu	37	11	59211078	59211078	+	Missense_Mutation	SNP	G	G	T	rs143071629	byFrequency	TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr11:59211078G>T	uc001nnx.1	+	0	437	c.437G>T	c.(436-438)cGc>cTc	p.R146L		NM_001004728	NP_001004728	Q8NGJ0	OR5A1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily A, member 1 (OR5A1), mRNA.	146					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						CTCTGTACACGCATGGTGGTT	0.552												
SF3B2	10992	broad.mit.edu	37	11	65836145	65836146	+	Frame_Shift_Ins	INS	-	-	A			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr11:65836145_65836146insA	uc001ogy.1	+	22	2657	c.2617_splice	c.e22-1	p.Q873_splice	PACS1_uc001ogz.1_5'Flank|PACS1_uc001oha.2_5'Flank	NM_006842	NP_006833	Q13435	SF3B2_HUMAN	Homo sapiens splicing factor 3b, subunit 2, 145kDa (SF3B2), mRNA.	873					interspecies interaction between organisms	catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex	nucleic acid binding|protein binding			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						CCCTATACAGCAAAAAAAACGG	0.515											OREG0021094	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
ODZ4	26011	broad.mit.edu	37	11	78380644	78380644	+	Missense_Mutation	SNP	C	C	A			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr11:78380644C>A	uc001ozl.4	-	31	7209	c.6746G>T	c.(6745-6747)gGt>gTt	p.G2249V	ODZ4_uc001ozk.4_Missense_Mutation_p.G474V	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA.	2249					signal transduction	integral to membrane				breast(4)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(45)|ovary(3)|pancreas(2)|prostate(4)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						TTGCACGTCACCCAGCCGAGT	0.562												
APOA4	337	broad.mit.edu	37	11	116691955	116691955	+	Silent	SNP	G	G	A	rs146365840	byFrequency	TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr11:116691955G>A	uc001pps.1	-	2	923	c.819C>T	c.(817-819)gaC>gaT	p.D273D		NM_000482	NP_000473			Homo sapiens apolipoprotein A-IV (APOA4), mRNA.											cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		TGCCACGCACGTCCTCGGCCA	0.672												
AICDA	57379	broad.mit.edu	37	12	8757515	8757515	+	Missense_Mutation	SNP	T	T	A			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr12:8757515T>A	uc001qur.2	-	3	510	c.431A>T	c.(430-432)tAt>tTt	p.Y144F	AICDA_uc001qup.1_Intron|AICDA_uc001quq.1_Intron|AICDA_uc009zgd.1_Intron	NM_020661	NP_065712	Q9GZX7	AICDA_HUMAN	Homo sapiens activation-induced cytidine deaminase (AICDA), mRNA.	144					B cell differentiation|DNA demethylation|mRNA processing|negative regulation of methylation-dependent chromatin silencing	cytoplasm	cytidine deaminase activity|protein binding|zinc ion binding	p.Y144H(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)	16	Lung SC(5;0.184)					GCAGTAAAAATAATCTTCAAA	0.428												
TWF1	5756	broad.mit.edu	37	12	44200088	44200100	+	Frame_Shift_Del	DEL	GCCAGCGGCCCCG	GCCAGCGGCCCCG	-			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr12:44200088_44200100delGCCAGCGGCCCCG	uc001roa.3	-	0	79_91	c.51_63delCGGGGCCGCTGGC	c.(49-63)gccggggccgctggcfs	p.A17fs	TWF1_uc001rnz.3_5'Flank|TWF1_uc001rob.3_5'UTR|TWF1_uc001roc.3_5'UTR	NM_002822	NP_002813	Q12792	TWF1_HUMAN	Homo sapiens twinfilin, actin-binding protein, homolog 1 (Drosophila) (TWF1), transcript variant 2, mRNA.	0	ADF-H 1.					actin cytoskeleton|cytoplasm	actin binding|protein tyrosine kinase activity			endometrium(2)|large_intestine(6)|lung(4)|prostate(1)|stomach(1)	14	all_cancers(12;0.00125)	Lung NSC(34;0.0804)|all_lung(34;0.181)		GBM - Glioblastoma multiforme(48;0.0474)		GCTGAGTGCAGCCAgcggccccggccggcggcc	0.775												
ZBTB39	9880	broad.mit.edu	37	12	57398062	57398062	+	Missense_Mutation	SNP	T	T	G			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr12:57398062T>G	uc001sml.2	-	1	793	c.640A>C	c.(640-642)Acc>Ccc	p.T214P	ZBTB39_uc021qzg.1_Missense_Mutation_p.T214P	NM_014830	NP_055645	O15060	ZBT39_HUMAN	Homo sapiens zinc finger and BTB domain containing 39 (ZBTB39), mRNA.	214					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.D213G(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1)	16						GGAGCAGGGGTGTCATGGTCT	0.572												
LRRIQ1	84125	broad.mit.edu	37	12	85450302	85450302	+	Silent	SNP	T	T	C			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr12:85450302T>C	uc001tac.3	+	7	1842	c.1731T>C	c.(1729-1731)gaT>gaC	p.D577D	LRRIQ1_uc021rbo.1_Silent_p.D455D|LRRIQ1_uc001taa.1_Silent_p.D552D	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 1 (LRRIQ1), mRNA.	577										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		TAATCAAAGATAATCAGCAGA	0.289												
WSB2	55884	broad.mit.edu	37	12	118490112	118490113	+	Splice_Site	INS	-	-	A			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr12:118490112_118490113insA	uc001twr.2	-	2	280	c.182_splice	c.e2+1	p.F61_splice	WSB2_uc010sza.1_Intron|WSB2_uc010szb.1_Splice_Site|WSB2_uc009zws.1_Splice_Site_p.F61_splice	NM_018639	NP_061109	Q9NYS7	WSB2_HUMAN	Homo sapiens WD repeat and SOCS box containing 2 (WSB2), mRNA.	61					intracellular signal transduction					breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CGAGAATACTTACAACTGCTCC	0.550												
ATP8A2	51761	broad.mit.edu	37	13	26411335	26411335	+	Missense_Mutation	SNP	T	T	A			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr13:26411335T>A	uc001uqk.3	+	28	2931	c.2789T>A	c.(2788-2790)aTc>aAc	p.I930N	ATP8A2_uc010tdi.2_Missense_Mutation_p.I865N|ATP8A2_uc010tdj.2_Non-coding_Transcript|ATP8A2_uc010aaj.1_Missense_Mutation_p.I480N	NM_016529	NP_057613	Q9NTI2	AT8A2_HUMAN	Homo sapiens ATPase, aminophospholipid transporter, class I, type 8A, member 2 (ATP8A2), mRNA.	890					ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		ACTCTGGGAATCTTTGAGAGG	0.502												
WASF3	10810	broad.mit.edu	37	13	27256966	27256967	+	Frame_Shift_Ins	INS	-	-	C			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr13:27256966_27256967insC	uc001uqv.3	+	8	1431_1432	c.1206_1207insC	c.(1204-1209)cctcccfs	p.P402fs	WASF3_uc001uqw.3_Frame_Shift_Ins_p.P399fs	NM_006646	NP_006637	Q9UPY6	WASF3_HUMAN	Homo sapiens WAS protein family, member 3 (WASF3), mRNA.	402	Poly-Pro.				actin filament polymerization	cytoplasm|cytoskeleton	actin binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		GCCCACCACCTCCCCCGCCAGG	0.708												
FLT1	2321	broad.mit.edu	37	13	28880897	28880897	+	Missense_Mutation	SNP	C	C	T			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr13:28880897C>T	uc001usb.3	-	28	4018	c.3733G>A	c.(3733-3735)Gac>Aac	p.D1245N	FLT1_uc010aap.2_Missense_Mutation_p.D250N|FLT1_uc010aaq.2_Missense_Mutation_p.D370N|FLT1_uc001usa.3_Missense_Mutation_p.D463N	NM_002019	NP_002010	P17948	VGFR1_HUMAN	Homo sapiens fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor) (FLT1), transcript variant 1, mRNA.	1245					cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	GTGCTGCTGTCGCCCTGGTAG	0.552												
FLT1	2321	broad.mit.edu	37	13	29004213	29004213	+	Silent	SNP	C	C	T			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr13:29004213C>T	uc001usb.3	-	7	1365	c.1080G>A	c.(1078-1080)aaG>aaA	p.K360K	FLT1_uc010aar.1_Silent_p.K360K|FLT1_uc001usc.3_Silent_p.K360K|FLT1_uc010tdp.1_Silent_p.K360K	NM_002019	NP_002010	P17948	VGFR1_HUMAN	Homo sapiens fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor) (FLT1), transcript variant 1, mRNA.	360	Ig-like C2-type 4.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	AGGGAAATGCCTTCACTTTCA	0.443												
DOCK9	23348	broad.mit.edu	37	13	99549805	99549805	+	Missense_Mutation	SNP	T	T	A			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr13:99549805T>A	uc001vnt.2	-	14	1704	c.1649A>T	c.(1648-1650)tAc>tTc	p.Y550F	DOCK9_uc001vnw.2_Missense_Mutation_p.Y549F|DOCK9_uc021rlw.1_Missense_Mutation_p.Y549F|DOCK9_uc001vnv.1_Non-coding_Transcript|DOCK9_uc010tir.1_Missense_Mutation_p.Y550F|DOCK9_uc010tis.1_Missense_Mutation_p.Y549F|DOCK9_uc010tit.1_Missense_Mutation_p.Y550F|DOCK9_uc010afu.1_Missense_Mutation_p.Y365F	NM_015296	NP_056111	Q9BZ29	DOCK9_HUMAN	Homo sapiens dedicator of cytokinesis 9 (DOCK9), transcript variant 1, mRNA.	550					blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GTCTTGCCTGTAGATGGCAGA	0.383												
COL4A2	1284	broad.mit.edu	37	13	111132630	111132630	+	Missense_Mutation	SNP	G	G	T			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr13:111132630G>T	uc001vqx.3	+	30	2940	c.2651G>T	c.(2650-2652)gGt>gTt	p.G884V		NM_001846	NP_001837	P08572	CO4A2_HUMAN	Homo sapiens collagen, type IV, alpha 2 (COL4A2), mRNA.	884	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)			GGCATGAAAGGTCTCTCTGGT	0.582												
ZFYVE26	23503	broad.mit.edu	37	14	68247033	68247033	+	Nonsense_Mutation	SNP	C	C	T			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr14:68247033C>T	uc001xka.2	-	22	4738	c.4599G>A	c.(4597-4599)tgG>tgA	p.W1533*	ZFYVE26_uc010tsz.1_Non-coding_Transcript|ZFYVE26_uc001xkc.4_Nonsense_Mutation_p.W1533*	NM_015346	NP_056161	Q68DK2	ZFY26_HUMAN	Homo sapiens zinc finger, FYVE domain containing 26 (ZFYVE26), mRNA.	1533					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		GCCAGTCACACCACACTGGGG	0.502												
NDUFB1	4707	broad.mit.edu	37	14	92588104	92588104	+	Missense_Mutation	SNP	G	G	C			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr14:92588104G>C	uc001yaf.3	-	0	50	c.18C>G	c.(16-18)caC>caG	p.H6Q	NDUFB1_uc001yag.1_Non-coding_Transcript|CPSF2_uc001yah.2_5'Flank	NM_004545	NP_004536	O75438	NDUB1_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 1, 7kDa (NDUFB1), nuclear gene encoding mitochondrial protein, mRNA.	14					mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			large_intestine(1)|lung(1)	2		all_cancers(154;0.0766)		COAD - Colon adenocarcinoma(157;0.205)	NADH(DB00157)	GAGCAGAGGGGTGACGCCAGC	0.517												
SERPINA1	5265	broad.mit.edu	37	14	94849084	94849084	+	Nonsense_Mutation	SNP	G	G	T			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr14:94849084G>T	uc001ycy.4	-	3	1045	c.491C>A	c.(490-492)tCa>tAa	p.S164*	SERPINA1_uc001ycw.4_Non-coding_Transcript|SERPINA1_uc001ycx.4_Nonsense_Mutation_p.S164*|SERPINA1_uc010auy.3_Nonsense_Mutation_p.S164*|SERPINA1_uc001ycz.4_Nonsense_Mutation_p.S164*|SERPINA1_uc010auz.3_Nonsense_Mutation_p.S164*|SERPINA1_uc010ava.3_Nonsense_Mutation_p.S164*|SERPINA1_uc001ydb.4_Nonsense_Mutation_p.S164*|SERPINA1_uc010avb.3_Nonsense_Mutation_p.S164*|SERPINA1_uc001ydc.4_Nonsense_Mutation_p.S164*|SERPINA1_uc010auw.3_Nonsense_Mutation_p.S164*|SERPINA1_uc010aux.3_Nonsense_Mutation_p.S164*|SERPINA1_uc001yda.1_Nonsense_Mutation_p.S164*	NM_001002236	NP_001121179	P01009	A1AT_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 (SERPINA1), transcript variant 2, mRNA.	164					acute-phase response|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen|proteinaceous extracellular matrix	protease binding|serine-type endopeptidase inhibitor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1)	24		all_cancers(154;0.0649)|all_epithelial(191;0.223)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)	Alpha-1-proteinase inhibitor(DB00058)	GAAGGCTTCTGAGTGGTACAA	0.502												
LCMT2	9836	broad.mit.edu	37	15	43622424	43622425	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr15:43622424_43622425delGA	uc001zrg.3	-	0	396_397	c.263_264delTC	c.(262-264)ctcfs	p.L88fs	ADAL_uc001zrh.3_5'Flank|ADAL_uc010udo.2_5'Flank	NM_014793	NP_055608	O60294	LCMT2_HUMAN	Homo sapiens leucine carboxyl methyltransferase 2 (LCMT2), mRNA.	88					tRNA processing		methyltransferase activity|protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(1)|urinary_tract(1)	20		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.1e-07)	L-Leucine(DB00149)	AGCCAGCGCCGAGAGACAAGAT	0.668												
UNC13C	440279	broad.mit.edu	37	15	54624283	54624283	+	Missense_Mutation	SNP	T	T	A			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr15:54624283T>A	uc021smr.1	+	12	4462	c.4462T>A	c.(4462-4464)Ttg>Atg	p.L1488M	UNC13C_uc021sms.1_Missense_Mutation_p.L1490M|UNC13C_uc002acl.3_Missense_Mutation_p.L320M	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	1490					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		ACATAACTCTTTGAGGATTGA	0.328												
MCTP2	55784	broad.mit.edu	37	15	94899492	94899492	+	Missense_Mutation	SNP	G	G	T			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr15:94899492G>T	uc002btj.3	+	7	1197	c.1132G>T	c.(1132-1134)Gtc>Ttc	p.V378F	MCTP2_uc010urg.1_Missense_Mutation_p.V378F|MCTP2_uc002bti.2_Missense_Mutation_p.V378F|MCTP2_uc010boj.3_Missense_Mutation_p.V107F|MCTP2_uc010bok.3_Missense_Mutation_p.V378F|MCTP2_uc002btk.4_5'UTR|MCTP2_uc002btl.3_5'UTR	NM_018349	NP_060819	Q6DN12	MCTP2_HUMAN	Homo sapiens multiple C2 domains, transmembrane 2 (MCTP2), transcript variant 1, mRNA.	378	C2 2.				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			AGAGATGTTTGTCCAGTTAAA	0.348												
CLEC16A	23274	broad.mit.edu	37	16	11118694	11118694	+	Missense_Mutation	SNP	G	G	C			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr16:11118694G>C	uc021tcy.1	+	12	1683	c.1453G>C	c.(1453-1455)Gtg>Ctg	p.V485L	CLEC16A_uc002dan.4_Missense_Mutation_p.V467L|CLEC16A_uc002dao.3_Missense_Mutation_p.V483L	NM_015226	NP_056041	Q2KHT3	CL16A_HUMAN	Homo sapiens C-type lectin domain family 16, member A (CLEC16A), transcript variant 1, mRNA.	485								p.0?(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						CCTGGATATGGTGTACCACGC	0.547												
FLJ00322	0	broad.mit.edu	37	16	15023280	15023280	+	Splice_Site	SNP	T	T	C			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr16:15023280T>C	uc010uzk.2	+	6	1123	c.847_splice	c.e6+2	p.G283_splice	NPIP_uc002dcx.4_Splice_Site					SubName: Full=cDNA FLJ57488, highly similar to Polycystin-1;																		CGCTGGCGGGTGAGGAGATCG	0.701												
CHST4	10164	broad.mit.edu	37	16	71570968	71570968	+	Missense_Mutation	SNP	C	C	T			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr16:71570968C>T	uc021tkt.1	+	0	388	c.388C>T	c.(388-390)Cgg>Tgg	p.R130W	CHST4_uc002fan.3_Missense_Mutation_p.R130W|CHST4_uc002fao.3_Missense_Mutation_p.R130W	NM_005769	NP_005760	Q8NCG5	CHST4_HUMAN	Homo sapiens carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4 (CHST4), transcript variant 1, mRNA.	130					cell-cell signaling|immune response|inflammatory response|N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity			cervix(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	21						GGAGAACAGCCGGGCCCTGTG	0.572												
ZCCHC14	23174	broad.mit.edu	37	16	87448975	87448975	+	Splice_Site	SNP	T	T	G			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr16:87448975T>G	uc002fjz.1	-	9	1000	c.973_splice	c.e9-1	p.F325_splice	ZCCHC14_uc002fka.1_Splice_Site|ZCCHC14_uc002fkb.3_Splice_Site_p.F101_splice	NM_015144	NP_055959	Q8WYQ9	ZCH14_HUMAN	Homo sapiens zinc finger, CCHC domain containing 14 (ZCCHC14), mRNA.	325					cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36				BRCA - Breast invasive adenocarcinoma(80;0.0285)		GCTCAAAAACTTTCACAGAAA	0.398												
ALOX15	246	broad.mit.edu	37	17	4542381	4542381	+	Silent	SNP	C	C	G	rs146477215		TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr17:4542381C>G	uc002fyh.3	-	2	409	c.384G>C	c.(382-384)cgG>cgC	p.R128R	ALOX15_uc010vsd.2_Silent_p.R89R|ALOX15_uc010vse.2_Silent_p.R150R	NM_001140	NP_001131	P16050	LOX15_HUMAN	Homo sapiens arachidonate 15-lipoxygenase (ALOX15), mRNA.	128	Lipoxygenase.				inflammatory response|leukotriene biosynthetic process	nucleus	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity	p.R128R(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5)	20				READ - Rectum adenocarcinoma(115;0.0327)	Ciclopirox(DB01188)|Masoprocol(DB00179)|Zileuton(DB00744)	GCTCTTCTTCCCGGTGTTTCT	0.577												
ARRB2	409	broad.mit.edu	37	17	4619828	4619828	+	Silent	SNP	A	A	C			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr17:4619828A>C	uc010vsg.2	+	4	510	c.282A>C	c.(280-282)ccA>ccC	p.P94P	ARRB2_uc002fyj.3_Silent_p.P94P|ARRB2_uc002fyk.3_Silent_p.P79P|ARRB2_uc002fyl.3_Silent_p.P94P|ARRB2_uc002fym.3_Silent_p.P79P|ARRB2_uc002fyn.3_5'UTR	NM_004313	NP_004304	P32121	ARRB2_HUMAN	Homo sapiens arrestin, beta 2 (ARRB2), transcript variant 1, mRNA.	94					cell chemotaxis|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|G-protein coupled receptor internalization|negative regulation of natural killer cell mediated cytotoxicity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway	coated pit|cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane	angiotensin receptor binding|ubiquitin protein ligase binding			large_intestine(1)|liver(2)|lung(3)|prostate(1)	7						TGCCCAACCCACCCCGGCCCC	0.667												
CD300A	11314	broad.mit.edu	37	17	72469708	72469709	+	Frame_Shift_Ins	INS	-	-	G			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr17:72469708_72469709insG	uc002jkv.3	+	1	395_396	c.74_75insG	c.(73-75)gcgfs	p.A25fs	CD300A_uc002jkw.3_Intron|CD300A_uc010dfr.3_Intron|CD300A_uc010dfs.3_Intron	NM_007261	NP_009192	Q9UGN4	CLM8_HUMAN	Homo sapiens CD300a molecule (CD300A), mRNA.	25	Ig-like V-type.				cell adhesion	integral to membrane|plasma membrane	receptor activity	p.V24M(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(4)|urinary_tract(1)	16						AGGACCGTGGCGGGCCCCGTGG	0.569												
DAPK3	1613	broad.mit.edu	37	19	3961153	3961153	+	Silent	SNP	G	G	A			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr19:3961153G>A	uc002lzc.1	-	5	730	c.636C>T	c.(634-636)agC>agT	p.S212S	DAPK3_uc002lzb.1_5'UTR|DAPK3_uc002lzd.1_Silent_p.S212S	NM_001348	NP_001339	O43293	DAPK3_HUMAN	Homo sapiens death-associated protein kinase 3 (DAPK3), mRNA.	212	Protein kinase.				apoptosis|chromatin modification|induction of apoptosis|intracellular protein kinase cascade	cytoplasm|PML body	ATP binding|leucine zipper domain binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGATGCACCGCTCAGGCTGC	0.662												
TSPAN16	26526	broad.mit.edu	37	19	11411902	11411902	+	Missense_Mutation	SNP	C	C	T			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr19:11411902C>T	uc002mqv.1	+	3	518	c.368C>T	c.(367-369)aCc>aTc	p.T123I	TSPAN16_uc002mqu.1_Non-coding_Transcript|AF161365_uc002mqw.1_Non-coding_Transcript	NM_012466	NP_036598	Q9UKR8	TSN16_HUMAN	Homo sapiens tetraspanin 16 (TSPAN16), mRNA.	123						integral to membrane				breast(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1)	12						TTGGAACACACCTTCGTGACC	0.498												
CYP4F12	66002	broad.mit.edu	37	19	15791069	15791069	+	Missense_Mutation	SNP	A	A	G			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr19:15791069A>G	uc002nbl.3	+	3	478	c.359A>G	c.(358-360)aAg>aGg	p.K120R	CYP4F12_uc010xoo.2_Missense_Mutation_p.K120R|CYP4F12_uc010xop.2_Missense_Mutation_p.K120R	NM_023944	NP_076433			Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 12 (CYP4F12), mRNA.											NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					ATTGCACCCAAGGATAATCTC	0.562												
YJEFN3	51079	broad.mit.edu	37	19	19638108	19638108	+	Silent	SNP	C	C	T			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr19:19638108C>T	uc002nmt.2	+						YJEFN3_uc021uqu.1_Silent_p.D64D|YJEFN3_uc021uqv.1_Silent_p.D64D|YJEFN3_uc021uqw.1_Silent_p.D64D|YJEFN3_uc010ecf.2_5'Flank|YJEFN3_uc002nmu.2_5'Flank	NM_198537	NP_940939	A6XGL0	YJEN3_HUMAN	Homo sapiens YjeF N-terminal domain containing 3 (YJEFN3), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.											NS(1)|breast(1)|lung(3)	5						AAATCGAGGACTTCGAGGCTC	0.642												
ZNF536	9745	broad.mit.edu	37	19	30934639	30934639	+	Missense_Mutation	SNP	A	A	G			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr19:30934639A>G	uc002nsu.1	+	1	308	c.170A>G	c.(169-171)gAg>gGg	p.E57G	ZNF536_uc010edd.1_Missense_Mutation_p.E57G	NM_014717	NP_055532	O15090	ZN536_HUMAN	Homo sapiens zinc finger protein 536 (ZNF536), mRNA.	57					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.P56A(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CCCAACCCCGAGGAGAAGCCC	0.677												
HNRNPL	3191	broad.mit.edu	37	19	39330868	39330868	+	Silent	SNP	T	T	G			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr19:39330868T>G	uc010xun.2	-	4	461	c.224A>C	c.(223-225)cAc>cCc	p.H75P	HNRNPL_uc002ojj.1_Silent_p.P23P|HNRNPL_uc010ege.1_Silent_p.P23P|HNRNPL_uc002ojk.3_Silent_p.P23P|HNRNPL_uc002ojl.3_Silent_p.P23P|HNRNPL_uc021uuh.1_Silent_p.P367P|HNRNPL_uc021uui.1_Silent_p.P234P|HNRNPL_uc002ojo.1_5'Flank|HNRNPL_uc002ojp.1_Silent_p.P23P			P14866	HNRPL_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein L (HNRNPL), transcript variant 2, mRNA.	367	Gly-rich.				nuclear mRNA splicing, via spliceosome	cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding|transcription regulatory region DNA binding	p.P367P(1)|p.P234P(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			GGGGAGGGGGTGGGGGGTGCC	0.642												
POU2F2	5452	broad.mit.edu	37	19	42596347	42596347	+	Missense_Mutation	SNP	G	G	C			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr19:42596347G>C	uc002osp.3	-	12	1336	c.1274C>G	c.(1273-1275)gCt>gGt	p.A425G	POU2F2_uc002osn.3_Missense_Mutation_p.A409G|POU2F2_uc002osq.3_Intron|POU2F2_uc002osr.2_Missense_Mutation_p.A425G	NM_001207025	NP_001193954	P09086	PO2F2_HUMAN	Homo sapiens POU class 2 homeobox 2 (POU2F2), transcript variant 1, mRNA.	425					humoral immune response|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(69;0.059)				ggggggcgcagccccgccccc	0.667												
GPR4	2828	broad.mit.edu	37	19	46094672	46094672	+	Silent	SNP	C	C	T			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr19:46094672C>T	uc002pcm.3	-	1	1398	c.453G>A	c.(451-453)gcG>gcA	p.A151A	OPA3_uc010xxk.2_Intron|GPR4_uc021uvw.1_Silent_p.A151A	NM_005282	NP_005273	P46093	GPR4_HUMAN	Homo sapiens G protein-coupled receptor 4 (GPR4), mRNA.	151						integral to plasma membrane	G-protein coupled receptor activity	p.A151S(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)		GGAACAGGGGCGCCGAGTTGG	0.657												
MYPOP	339344	broad.mit.edu	37	19	46393971	46393971	+	Silent	SNP	T	T	G			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr19:46393971T>G	uc002pdt.3	-	2	1197	c.1110A>C	c.(1108-1110)ccA>ccC	p.P370P		NM_001012643	NP_001012661	Q86VE0	MYPOP_HUMAN	Homo sapiens Myb-related transcription factor, partner of profilin (MYPOP), mRNA.	370	Pro-rich.					nucleus	DNA binding	p.A371fs*>30(1)		large_intestine(2)|lung(1)|skin(1)	4						GGAGCGGGGCTGGGGGGGGCC	0.657												
ZNF814	730051	broad.mit.edu	37	19	58385050	58385050	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr19:58385050G>A	uc002qqo.2	-	2	1980	c.1708C>T	c.(1708-1710)Cac>Tac	p.H570Y	ZNF814_uc002qqk.2_Intron|ZNF814_uc010yhl.2_Intron	NM_001144989	NP_001138461	B7Z6K7	ZN814_HUMAN	Homo sapiens zinc finger protein 814 (ZNF814), mRNA.	570					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						TCTCTAGGGTGAACTCGCTGA	0.468												
DCTN1	1639	broad.mit.edu	37	2	74592698	74592698	+	Silent	SNP	G	G	A	rs140969689	by1000genomes	TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr2:74592698G>A	uc002skx.3	-	24	3291	c.2973C>T	c.(2971-2973)atC>atT	p.I991I	SLC4A5_uc002skl.3_5'Flank|DCTN1_uc002skt.2_5'Flank|DCTN1_uc002skv.3_Silent_p.I857I|DCTN1_uc002sku.3_Silent_p.I857I|DCTN1_uc002skw.2_Silent_p.I984I|DCTN1_uc010ffd.3_Silent_p.I971I|DCTN1_uc002sky.3_Silent_p.I954I	NM_004082	NP_004073	Q14203	DCTN1_HUMAN	Homo sapiens dynactin 1 (DCTN1), transcript variant 1, mRNA.	991					cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						GGACTTTCTCGATGCGCTCAT	0.577												
PSD4	23550	broad.mit.edu	37	2	113940791	113940791	+	Missense_Mutation	SNP	C	C	T			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr2:113940791C>T	uc002tjc.3	+	1	941	c.758C>T	c.(757-759)gCg>gTg	p.A253V	PSD4_uc002tjd.3_5'UTR|PSD4_uc002tje.3_Missense_Mutation_p.A252V|PSD4_uc002tjf.3_5'Flank	NM_012455	NP_036587	Q8NDX1	PSD4_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 4 (PSD4), mRNA.	253					regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CTCTTCCTGGCGAGTCCTTGC	0.602												
SCN9A	6335	broad.mit.edu	37	2	167056293	167056293	+	Missense_Mutation	SNP	C	C	T	rs142201175		TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr2:167056293C>T	uc010fpl.3	-	26	5164	c.4823G>A	c.(4822-4824)cGa>cAa	p.R1608Q	BC051759_uc002udp.3_Non-coding_Transcript	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	1619						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.R1608Q(2)		NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	ACGTAGGATTCGGCCAATCCT	0.483												
FRZB	2487	broad.mit.edu	37	2	183703198	183703198	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr2:183703198G>A	uc002upa.2	-	3	954	c.736C>T	c.(736-738)Cct>Tct	p.P246S		NM_001463	NP_001454	Q92765	SFRP3_HUMAN	Homo sapiens frizzled-related protein (FRZB), mRNA.	246	NTR.				brain development|cochlea morphogenesis|gonad development|mammary gland involution|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of hepatocyte differentiation|positive regulation of apoptosis|positive regulation of fat cell differentiation|skeletal system development|vasculature development|Wnt receptor signaling pathway	cytoplasm|extracellular space|membrane	PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(117;0.109)|Epithelial(96;0.231)			TTAAGTGGAGGGCAGAGGCAG	0.438												
COL5A2	1290	broad.mit.edu	37	2	189927922	189927923	+	Frame_Shift_Ins	INS	-	-	C			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr2:189927922_189927923insC	uc002uqk.3	-	26	2119_2120	c.1844_1845insG	c.(1843-1845)ggcfs	p.G615fs	COL5A2_uc010frx.3_Frame_Shift_Ins_p.G191fs	NM_000393	NP_000384	P05997	CO5A2_HUMAN	Homo sapiens collagen, type V, alpha 2 (COL5A2), mRNA.	615					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			GGCCTGGAAGGCCCATGCTCCC	0.520												
IRS1	3667	broad.mit.edu	37	2	227659846	227659846	+	Silent	SNP	T	T	G			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr2:227659846T>G	uc021vxn.1	-	0	3609	c.3609A>C	c.(3607-3609)ccA>ccC	p.P1203P	IRS1_uc002voh.4_Silent_p.P1203P	NM_005544	NP_005535	P35568	IRS1_HUMAN	Homo sapiens insulin receptor substrate 1 (IRS1), mRNA.	1203	Pro-rich.				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		GGGGTGGGGGTGGGGGAGGCT	0.582												
ECEL1	9427	broad.mit.edu	37	2	233346218	233346218	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr2:233346218G>A	uc002vsv.2	-	13	2192	c.1987C>T	c.(1987-1989)Cgg>Tgg	p.R663W	ECEL1_uc010fya.1_Missense_Mutation_p.R661W|ECEL1_uc010fyb.1_Missense_Mutation_p.R370W	NM_004826	NP_004817	O95672	ECEL1_HUMAN	Homo sapiens endothelin converting enzyme-like 1 (ECEL1), mRNA.	663					neuropeptide signaling pathway|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)		GGTCTCACCCGCTGGTTGTAG	0.622												
SLC23A2	9962	broad.mit.edu	37	20	4850569	4850569	+	Frame_Shift_Del	DEL	G	G	-	rs138961929		TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr20:4850569delG	uc002wlg.1	-	11	1608	c.1233delC	c.(1231-1233)cccfs	p.P411fs	SLC23A2_uc010zqr.1_Frame_Shift_Del_p.P296fs|SLC23A2_uc002wlh.1_Frame_Shift_Del_p.P411fs|SLC23A2_uc002wli.3_Frame_Shift_Del_p.P410fs	NM_005116	NP_976072	Q9UGH3	S23A2_HUMAN	Homo sapiens solute carrier family 23 (nucleobase transporters), member 2 (SLC23A2), transcript variant 1, mRNA.	411					L-ascorbic acid metabolic process|molecular hydrogen transport|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transepithelial L-ascorbic acid transport	apical plasma membrane|integral to plasma membrane|membrane fraction	nucleobase transmembrane transporter activity|sodium-dependent L-ascorbate transmembrane transporter activity|sodium-dependent multivitamin transmembrane transporter activity	p.I412fs*4(1)		endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						TTGCGTGGATGGGGGGGGGTG	0.527												
SRMS	6725	broad.mit.edu	37	20	62172863	62172863	+	Missense_Mutation	SNP	C	C	T	rs61740255		TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr20:62172863C>T	uc002yfi.1	-	5	1098	c.1057G>A	c.(1057-1059)Gcc>Acc	p.A353T		NM_080823	NP_543013	Q9H3Y6	SRMS_HUMAN	Homo sapiens src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites (SRMS), mRNA.	353	Protein kinase.						ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|stomach(1)	19	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			ACGTTCCGGGCGGCCAAGTCC	0.706												
ZNRF3	84133	broad.mit.edu	37	22	29440867	29440867	+	Nonsense_Mutation	SNP	C	C	T			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr22:29440867C>T	uc003aeg.3	+	4	733	c.733C>T	c.(733-735)Cga>Tga	p.R245*	ZNRF3_uc021wnq.1_Nonsense_Mutation_p.R145*	NM_001206998	NP_001193927	Q9ULT6	ZNRF3_HUMAN	Homo sapiens zinc and ring finger 3 (ZNRF3), transcript variant 1, mRNA.	245						integral to membrane	zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						GCTGAAGCAGCGACGCAGTCA	0.512												
SF3A1	10291	broad.mit.edu	37	22	30736312	30736312	+	Silent	SNP	A	A	C			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr22:30736312A>C	uc003ahl.3	-	8	1380	c.1248T>G	c.(1246-1248)acT>acG	p.T416T	SF3A1_uc021wnt.1_Silent_p.T351T	NM_005877	NP_005868	Q15459	SF3A1_HUMAN	Homo sapiens splicing factor 3a, subunit 1, 120kDa (SF3A1), transcript variant 1, mRNA.	416					nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|U2-type spliceosomal complex	protein binding|RNA binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1)	29						TCTTCTCCCCAGTAATGGGGG	0.557												
GCAT	23464	broad.mit.edu	37	22	38211771	38211771	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr22:38211771G>A	uc003aua.2	+	6	1057	c.994G>A	c.(994-996)Gcc>Acc	p.A332T	GCAT_uc003atz.3_Missense_Mutation_p.A306T	NM_001171690	NP_001165161	O75600	KBL_HUMAN	Homo sapiens glycine C-acetyltransferase (GCAT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	306					biosynthetic process|cellular amino acid metabolic process		glycine C-acetyltransferase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	12	Melanoma(58;0.045)				Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	CGTTGGCTGCGCCTCCAAGGC	0.657												
OXSR1	9943	broad.mit.edu	37	3	38278405	38278405	+	Missense_Mutation	SNP	T	T	C			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr3:38278405T>C	uc003chy.3	+	10	1369	c.1027T>C	c.(1027-1029)Ttt>Ctt	p.F343L	OXSR1_uc010hhb.3_Missense_Mutation_p.F277L	NM_005109	NP_005100	O95747	OXSR1_HUMAN	Homo sapiens oxidative-stress responsive 1 (OXSR1), mRNA.	343					intracellular protein kinase cascade|response to oxidative stress		ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity			skin(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		TGATGATGAATTTGATGAAGA	0.423												
PRSS50	29122	broad.mit.edu	37	3	46759087	46759087	+	Silent	SNP	A	A	C			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr3:46759087A>C	uc003cqe.1	-	1	629	c.147T>G	c.(145-147)acT>acG	p.T49T	PRSS50_uc021wxe.1_Silent_p.T49T|PRSS50_uc003cqf.2_Intron	NM_013270	NP_037402	Q9UI38	TSP50_HUMAN	Homo sapiens protease, serine, 50 (PRSS50), mRNA.	49					proteolysis	endoplasmic reticulum	serine-type endopeptidase activity|threonine-type endopeptidase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	11						CGGGATCAGCAGTGGACAGCG	0.706												
CNTN3	5067	broad.mit.edu	37	3	74420493	74420493	+	Missense_Mutation	SNP	C	C	T			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr3:74420493C>T	uc003dpm.1	-	4	592	c.512G>A	c.(511-513)cGg>cAg	p.R171Q		NM_020872	NP_065923	Q9P232	CNTN3_HUMAN	Homo sapiens contactin 3 (plasmacytoma associated) (CNTN3), mRNA.	171	Ig-like C2-type 2.				cell adhesion	anchored to membrane|plasma membrane	protein binding	p.R171Q(2)		NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		GACAAATCTCCGACTATCTTC	0.403												
OR5H6	79295	broad.mit.edu	37	3	97983841	97983841	+	Missense_Mutation	SNP	T	T	C			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr3:97983841T>C	uc003dsi.1	+	0	713	c.713T>C	c.(712-714)cTc>cCc	p.L238P		NM_001005479	NP_001005479	Q8NGV6	OR5H6_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 6 (OR5H6), mRNA.	238					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						ACAATTATCCTCTTTACAATC	0.353												
CCDC54	84692	broad.mit.edu	37	3	107096949	107096949	+	Missense_Mutation	SNP	A	A	C			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr3:107096949A>C	uc003dwi.1	+	0	762	c.515A>C	c.(514-516)aAa>aCa	p.K172T		NM_032600	NP_115989	Q8NEL0	CCD54_HUMAN	Homo sapiens coiled-coil domain containing 54 (CCDC54), mRNA.	172										NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	19						CTGCTTTACAAACTCATACAA	0.433												
ATR	545	broad.mit.edu	37	3	142234329	142234329	+	Missense_Mutation	SNP	A	A	G			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr3:142234329A>G	uc003eux.4	-	24	4533	c.4411T>C	c.(4411-4413)Tgg>Cgg	p.W1471R		NM_001184	NP_001175	Q13535	ATR_HUMAN	Homo sapiens ataxia telangiectasia and Rad3 related (ATR), mRNA.	1471					cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						ACTCCAGACCAATCGGTTGAC	0.318								Other conserved DNA damage response genes				
LEKR1	389170	broad.mit.edu	37	3	156710933	156710933	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr3:156710933G>A	uc021xgh.1	+	8	1090	c.976G>A	c.(976-978)Gaa>Aaa	p.E326K	LEKR1_uc003fba.1_Non-coding_Transcript	NM_001004316	NP_001004316	D3DNK7	D3DNK7_HUMAN	Homo sapiens leucine, glutamate and lysine rich 1 (LEKR1), transcript variant 1, mRNA.	42										breast(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	11			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			AGCATTACAGGAAGAGCTGAC	0.348												
PIK3CA	5290	broad.mit.edu	37	3	178916614	178916614	+	Missense_Mutation	SNP	A	A	G			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr3:178916614A>G	uc003fjk.3	+	1	158	c.1A>G	c.(1-3)Atg>Gtg	p.M1V		NM_006218	NP_006209	P42336	PK3CA_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.	1					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.M1V(3)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			AATCAGAACAATGCCTCCACG	0.378		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)		
CHRD	8646	broad.mit.edu	37	3	184104344	184104344	+	Missense_Mutation	SNP	T	T	G			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr3:184104344T>G	uc003fov.3	+	15	2243	c.1997T>G	c.(1996-1998)gTg>gGg	p.V666G	CHRD_uc003fow.3_Missense_Mutation_p.V296G|CHRD_uc003fox.3_Missense_Mutation_p.V666G|CHRD_uc003foy.3_Missense_Mutation_p.V296G|CHRD_uc010hyc.3_Missense_Mutation_p.V256G|CHRD_uc011brr.2_Intron	NM_003741	NP_003732	Q9H2X0	CHRD_HUMAN	Homo sapiens chordin (CHRD), mRNA.	666					BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GCCGAGGGGGTGCGGGCGCTG	0.726												
TNK2	10188	broad.mit.edu	37	3	195595228	195595229	+	Frame_Shift_Ins	INS	-	-	G			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr3:195595228_195595229insG	uc003fvu.1	-	11	2438_2439	c.1895_1896insC	c.(1894-1896)ccgfs	p.P632fs	TNK2_uc003fvq.1_Frame_Shift_Ins_p.P39fs|TNK2_uc003fvr.1_Frame_Shift_Ins_p.P157fs|TNK2_uc003fvs.1_Frame_Shift_Ins_p.P664fs|TNK2_uc003fvt.1_Frame_Shift_Ins_p.P710fs|TNK2_uc010hzw.1_Non-coding_Transcript|TNK2_uc003fvv.1_3'UTR	NM_005781	NP_005772	Q07912	ACK1_HUMAN	Homo sapiens tyrosine kinase, non-receptor, 2 (TNK2), transcript variant 1, mRNA.	632	Pro-rich.|Required for interaction with NEDD4 (By similarity).|Required for interaction with SRC.			Missing (in Ref. 4; AAH08884).	positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	CATAGGCGGGCGGGGGGGGCAG	0.728												
FGFRL1	53834	broad.mit.edu	37	4	1018839	1018839	+	Missense_Mutation	SNP	A	A	C			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr4:1018839A>C	uc003gce.3	+	6	1380	c.1219A>C	c.(1219-1221)Acc>Ccc	p.T407P	FGFRL1_uc003gcf.3_Missense_Mutation_p.T407P|FGFRL1_uc003gcg.3_Missense_Mutation_p.T407P|FGFRL1_uc010ibo.3_Missense_Mutation_p.T407P	NM_021923	NP_068742	Q8N441	FGRL1_HUMAN	Homo sapiens fibroblast growth factor receptor-like 1 (FGFRL1), transcript variant 3, mRNA.	407					regulation of cell growth	integral to membrane|plasma membrane	fibroblast growth factor receptor activity|heparin binding			endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			GAAGCCGTGCACCCCCGCGCC	0.731												
DRD5	1816	broad.mit.edu	37	4	9784657	9784657	+	Missense_Mutation	SNP	G	G	T			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr4:9784657G>T	uc003gmb.4	+	0	1400	c.1004G>T	c.(1003-1005)tGc>tTc	p.C335F		NM_000798	NP_000789	P21918	DRD5_HUMAN	Homo sapiens dopamine receptor D5 (DRD5), mRNA.	335					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	GGCTTCCCCTGCGTCAGTGAG	0.587												
NKX3-2	579	broad.mit.edu	37	4	13543971	13543971	+	Silent	SNP	C	C	G			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr4:13543971C>G	uc003gmx.2	-	1	724	c.648G>C	c.(646-648)gcG>gcC	p.A216A		NM_001189	NP_001180	P78367	NKX32_HUMAN	Homo sapiens NK3 homeobox 2 (NKX3-2), mRNA.	216					negative regulation of chondrocyte differentiation|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(1)|lung(4)|prostate(1)	7						CGAAGACCTGCGCGTGGGAGA	0.741												
NKX3-2	579	broad.mit.edu	37	4	13543978	13543978	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr4:13543978G>A	uc003gmx.2	-	1	717	c.641C>T	c.(640-642)tCc>tTc	p.S214F		NM_001189	NP_001180	P78367	NKX32_HUMAN	Homo sapiens NK3 homeobox 2 (NKX3-2), mRNA.	214					negative regulation of chondrocyte differentiation|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(1)|lung(4)|prostate(1)	7						CTGCGCGTGGGAGAAAGCGGC	0.751												
KLF3	51274	broad.mit.edu	37	4	38698729	38698729	+	Nonsense_Mutation	SNP	G	G	T			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr4:38698729G>T	uc003gth.4	+	5	1215	c.883G>T	c.(883-885)Gaa>Taa	p.E295*		NM_016531	NP_057615	P57682	KLF3_HUMAN	Homo sapiens Kruppel-like factor 3 (basic) (KLF3), mRNA.	295					multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(5)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	18						ATGTACATGGGAAGGGTGCAC	0.403												
TLL1	7092	broad.mit.edu	37	4	166978363	166978363	+	Missense_Mutation	SNP	G	G	A	rs141877254		TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr4:166978363G>A	uc003irh.2	+	13	2395	c.1748G>A	c.(1747-1749)cGt>cAt	p.R583H	TLL1_uc011cjn.2_Missense_Mutation_p.R606H|TLL1_uc011cjo.2_Missense_Mutation_p.R407H	NM_012464	NP_036596	O43897	TLL1_HUMAN	Homo sapiens tolloid-like 1 (TLL1), transcript variant 1, mRNA.	583	EGF-like 1; calcium-binding (Potential).				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		AAACCTGACCGTGGAGGCTGT	0.473												
GPR98	84059	broad.mit.edu	37	5	89910651	89910651	+	Splice_Site	SNP	G	G	T			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr5:89910651G>T	uc003kju.3	+	2	119	c.23_splice	c.e2-1	p.G8_splice	GPR98_uc003kjt.3_Splice_Site	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	8					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TTTTGTTTTAGGGATGCCCTC	0.274												
SLCO6A1	133482	broad.mit.edu	37	5	101724473	101724473	+	Missense_Mutation	SNP	G	G	A	rs140805258	byFrequency	TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr5:101724473G>A	uc003knn.3	-	11	2108	c.1936C>T	c.(1936-1938)Cgg>Tgg	p.R646W	SLCO6A1_uc003kno.3_Missense_Mutation_p.R393W|SLCO6A1_uc003knp.3_Missense_Mutation_p.R646W|SLCO6A1_uc003knq.3_Missense_Mutation_p.R584W	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 6A1 (SLCO6A1), mRNA.	646						integral to membrane|plasma membrane	transporter activity	p.R646L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		TTAACATCCCGTAAAATACAA	0.313												
MCC	4163	broad.mit.edu	37	5	112824048	112824049	+	In_Frame_Ins	INS	-	-	GCC	rs35336557		TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr5:112824048_112824049insGCC	uc003kql.4	-	0	479_480	c.63_64insGGC	c.(61-66)insGGC	p.21_22insG		NM_001085377	NP_001078846	P23508	CRCM_HUMAN	Homo sapiens mutated in colorectal cancers (MCC), transcript variant 1, mRNA.	549					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity	p.S22*(1)		endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		ctgctgccgctgccgccgccgc	0.738												
CD14	929	broad.mit.edu	37	5	140011717	140011717	+	Silent	SNP	C	C	T	rs150900616		TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr5:140011717C>T	uc003lgi.2	-	1	1231	c.852G>A	c.(850-852)tcG>tcA	p.S284S	CD14_uc003lgj.2_Silent_p.S284S|CD14_uc021yej.1_Silent_p.S284S|CD14_uc021yek.1_Silent_p.S284S|CD14_uc021yel.1_Silent_p.S153S	NM_000591	NP_001167576	P08571	CD14_HUMAN	Homo sapiens CD14 molecule (CD14), transcript variant 1, mRNA.	284					apoptosis|cellular response to lipopolysaccharide|cellular response to lipoteichoic acid|inflammatory response|innate immune response|phagocytosis|positive regulation of tumor necrosis factor production|Toll signaling pathway	anchored to membrane|plasma membrane	lipopolysaccharide binding|lipoteichoic acid binding|opsonin receptor activity|peptidoglycan receptor activity			endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCCAGCGAACGACAGATTGA	0.617												
WWC1	23286	broad.mit.edu	37	5	167880985	167880985	+	Silent	SNP	G	G	A			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr5:167880985G>A	uc003lzu.3	+	17	2631	c.2538G>A	c.(2536-2538)gaG>gaA	p.E846E	WWC1_uc003lzv.3_Silent_p.E846E|WWC1_uc011den.2_Silent_p.E846E|WWC1_uc003lzw.3_Silent_p.E645E|WWC1_uc010jjf.1_Silent_p.E118E	NM_015238	NP_056053	Q8IX03	KIBRA_HUMAN	Homo sapiens WW and C2 domain containing 1 (WWC1), transcript variant 3, mRNA.	846	Glu-rich.|Interaction with histone H3.				cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		GGTATGAGGAGACCAGTGAGA	0.537												
FLOT1	10211	broad.mit.edu	37	6	30697825	30697826	+	Frame_Shift_Del	DEL	TT	TT	-	rs144712534	byFrequency	TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr6:30697825_30697826delTT	uc003nrm.3	-	11	1391_1392	c.1227_1228delAA	c.(1225-1230)gaaagafs	p.E409fs	FLOT1_uc011dmr.2_Frame_Shift_Del_p.E361fs	NM_005803	NP_005794	O75955	FLOT1_HUMAN	Homo sapiens flotillin 1 (FLOT1), mRNA.	409						centriolar satellite|endosome|integral to membrane|melanosome|membrane fraction				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|prostate(1)	13						CCTGTGAGTCTTTCCACACTCT	0.530												
STK19	8859	broad.mit.edu	37	6	31939829	31939830	+	Frame_Shift_Ins	INS	-	-	A			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr6:31939829_31939830insA	uc003nyv.3	+	0	184_185	c.56_57insA	c.(55-57)gcafs	p.A19fs	DOM3Z_uc003nyp.1_5'UTR|DOM3Z_uc003nyq.1_5'UTR|DOM3Z_uc010jtl.1_5'UTR|STK19_uc003nyt.3_5'UTR|DOM3Z_uc003nyu.1_5'UTR|STK19_uc011dow.2_Frame_Shift_Ins_p.A19fs|STK19_uc011dox.1_5'UTR|STK19_uc003nyw.3_Frame_Shift_Ins_p.A19fs|STK19_uc010jtn.1_5'Flank	NM_032454	NP_115830	P49842	STK19_HUMAN	Homo sapiens serine/threonine kinase 19 (STK19), transcript variant 2, mRNA.	19						nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			skin(5)|upper_aerodigestive_tract(2)	7						CAGTGGCGGGCAAACCCCTCCC	0.634												
LGSN	51557	broad.mit.edu	37	6	63990164	63990164	+	Missense_Mutation	SNP	A	A	C			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr6:63990164A>C	uc003peh.3	-	3	1326	c.1292T>G	c.(1291-1293)cTt>cGt	p.L431R	LGSN_uc003pei.3_3'UTR	NM_016571	NP_057655	Q5TDP6	LGSN_HUMAN	Homo sapiens lengsin, lens protein with glutamine synthetase domain (LGSN), transcript variant 1, mRNA.	431					glutamine biosynthetic process		glutamate-ammonia ligase activity			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34					L-Glutamic Acid(DB00142)	ACTGCTATGAAGTCCATCTAA	0.478												
FILIP1	27145	broad.mit.edu	37	6	76024397	76024397	+	Missense_Mutation	SNP	C	C	T	rs147080592		TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr6:76024397C>T	uc010kbe.3	-	5	1690	c.1160G>A	c.(1159-1161)cGa>cAa	p.R387Q	FILIP1_uc003phy.1_Missense_Mutation_p.R384Q|FILIP1_uc003phz.3_Missense_Mutation_p.R285Q|FILIP1_uc003pia.3_Missense_Mutation_p.R384Q|FILIP1_uc003pib.1_Missense_Mutation_p.R136Q	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN	Homo sapiens filamin A interacting protein 1 (FILIP1), mRNA.	384								p.R384Q(1)		breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						CACACGCTTTCGAAGATTTTC	0.418												
CASP8AP2	9994	broad.mit.edu	37	6	90577200	90577200	+	Silent	SNP	G	G	A			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr6:90577200G>A	uc003pnr.3	+	7	4387	c.4191G>A	c.(4189-4191)ccG>ccA	p.P1397P	CASP8AP2_uc003pns.2_Intron|CASP8AP2_uc003pnt.3_Silent_p.P1397P|CASP8AP2_uc011dzz.2_Silent_p.P1397P	NM_001137667	NP_001131139	Q9UKL3	C8AP2_HUMAN	Homo sapiens caspase 8 associated protein 2 (CASP8AP2), transcript variant 2, mRNA.	1397					cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity			NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		TTTCATTGCCGGTTCATCCTG	0.393												
SYNE1	23345	broad.mit.edu	37	6	152461140	152461140	+	Missense_Mutation	SNP	C	C	T	rs143049227		TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr6:152461140C>T	uc021zhb.1	-	137	25626	c.25403G>A	c.(25402-25404)cGt>cAt	p.R8468H	SYNE1_uc003qos.4_Missense_Mutation_p.R2992H|SYNE1_uc003qot.4_Missense_Mutation_p.R8420H|SYNE1_uc003qou.4_Missense_Mutation_p.R8468H|SYNE1_uc011eez.2_Missense_Mutation_p.R670H|SYNE1_uc003qoq.4_Missense_Mutation_p.R670H|SYNE1_uc003qor.4_Missense_Mutation_p.R1391H	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	8468			R -> H (in a colorectal cancer sample; somatic mutation).		cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	p.R8468H(8)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GAGTTCCAGACGCTGGAGCTG	0.557										HNSCC(10;0.0054)		
FNDC1	84624	broad.mit.edu	37	6	159653439	159653439	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr6:159653439G>A	uc010kjv.3	+	10	2095	c.1895G>A	c.(1894-1896)cGt>cAt	p.R632H	FNDC1_uc010kjw.1_Missense_Mutation_p.R517H	NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN	Homo sapiens fibronectin type III domain containing 1 (FNDC1), mRNA.	632						extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		ACCTCTCATCGTCCTTCCCTG	0.682												
GPNMB	10457	broad.mit.edu	37	7	23309680	23309680	+	Silent	SNP	C	C	T			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr7:23309680C>T	uc003swc.3	+	8	1512	c.1351C>T	c.(1351-1353)Ctg>Ttg	p.L451L	GPNMB_uc003swb.3_Silent_p.L439L|GPNMB_uc011jyy.2_Silent_p.L393L|GPNMB_uc011jyz.2_Silent_p.L340L	NM_001005340	NP_001005340	Q14956	GPNMB_HUMAN	Homo sapiens glycoprotein (transmembrane) nmb (GPNMB), transcript variant 1, mRNA.	451					negative regulation of cell proliferation	melanosome				breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2)	41			GBM - Glioblastoma multiforme(13;0.154)			TGAGATGTGTCTGCTGACTGT	0.557												
FAM188B	84182	broad.mit.edu	37	7	30890151	30890151	+	Silent	SNP	A	A	G			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr7:30890151A>G	uc003tbt.3	+	9	1604	c.1527A>G	c.(1525-1527)cgA>cgG	p.R509R	FAM188B_uc010kwe.3_Silent_p.R480R|FAM188B_uc011kac.1_5'Flank	NM_032222	NP_115598	Q4G0A6	F188B_HUMAN	Homo sapiens family with sequence similarity 188, member B (FAM188B), mRNA.	509										endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CAGGGGGCCGAGAGAGAGCCG	0.622												
HECW1	23072	broad.mit.edu	37	7	43360338	43360338	+	Missense_Mutation	SNP	G	G	C			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr7:43360338G>C	uc003tid.1	+	4	1062	c.457G>C	c.(457-459)Gaa>Caa	p.E153Q	HECW1_uc011kbi.1_Missense_Mutation_p.E153Q|HECW1_uc003tie.1_Missense_Mutation_p.E185Q	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 (HECW1), mRNA.	153					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	p.T152S(1)		NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						GTACTTTGTGGAACGTGAGTA	0.458												
MUC17	140453	broad.mit.edu	37	7	100687031	100687031	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr7:100687031G>A	uc003uxp.1	+	2	12387	c.12334G>A	c.(12334-12336)Gct>Act	p.A4112T	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	4112						extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GACCACCACCGCTGTCCCCAC	0.507												
CDHR3	222256	broad.mit.edu	37	7	105660912	105660912	+	Frame_Shift_Del	DEL	A	A	-			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr7:105660912delA	uc003vdl.4	+	12	1855	c.1747delA	c.(1747-1749)acafs	p.T583fs	CDHR3_uc003vdk.3_Intron|CDHR3_uc003vdm.4_Frame_Shift_Del_p.T570fs|CDHR3_uc011klt.2_Frame_Shift_Del_p.T495fs|CDHR3_uc003vdn.3_Intron	NM_152750	NP_689963	Q6ZTQ4	CDHR3_HUMAN	Homo sapiens cadherin-related family member 3 (CDHR3), mRNA.	583	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						GAAAGTTGGCACAAATATTCA	0.428												
PPP1R3A	5506	broad.mit.edu	37	7	113558442	113558442	+	Nonsense_Mutation	SNP	T	T	A			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr7:113558442T>A	uc010ljy.1	-	0	641	c.610A>T	c.(610-612)Aaa>Taa	p.K204*		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3A (PPP1R3A), mRNA.	204	CBM21.				glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						AACTCAACTTTACTGCCATCT	0.318												
BRAF	673	broad.mit.edu	37	7	140453141	140453141	+	Silent	SNP	A	A	T			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr7:140453141A>T	uc003vwc.4	-	14	1855	c.1794T>A	c.(1792-1794)gcT>gcA	p.A598A		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	598	Protein kinase.				activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.L597R(16)|p.A598_T599insV(13)|p.L597V(13)|p.L597S(13)|p.L597Q(13)|p.A598V(4)|p.L597L(3)|p.L597_A598insT(2)|p.A598T(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	ATTTCACTGTAGCTAGACCAA	0.368		61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome			
CSMD1	64478	broad.mit.edu	37	8	2832079	2832079	+	Silent	SNP	G	G	A			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr8:2832079G>A	uc022aqr.1	-	55	9024	c.8634C>T	c.(8632-8634)ggC>ggT	p.G2878G	CSMD1_uc011kwj.2_Silent_p.G2208G|CSMD1_uc010lrg.3_Silent_p.G889G	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	2879	Sushi 21.					integral to membrane		p.G2607G(1)|p.G2878G(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GCACGACGGCGCCATAGGTAA	0.557												
USP17L2	377630	broad.mit.edu	37	8	11995987	11995987	+	Silent	SNP	G	G	A	rs3988861		TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr8:11995987G>A	uc003wvc.1	-	0	283	c.283C>T	c.(283-285)Ctg>Ttg	p.L95L	LOC100506990_uc011kxp.1_Intron|LOC100506990_uc011kxo.1_Intron	NM_201402	NP_958804	Q6R6M4	U17L2_HUMAN	Homo sapiens ubiquitin specific peptidase 17-like 2 (USP17L2), mRNA.	95					apoptosis|cell cycle|G2/M transition checkpoint|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.L95L(2)		central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						AGGCACTGCAGGGAAGCGTTC	0.567												
SLC7A2	6542	broad.mit.edu	37	8	17422587	17422587	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr8:17422587G>A	uc011kye.2	+	11	2077	c.2029G>A	c.(2029-2031)Gca>Aca	p.A677T	SLC7A2_uc011kyc.2_Missense_Mutation_p.A637T|SLC7A2_uc011kyd.2_Missense_Mutation_p.A676T	NM_001164771	NP_001158243	P52569	CTR2_HUMAN	Homo sapiens solute carrier family 7 (cationic amino acid transporter, y+ system), member 2 (SLC7A2), transcript variant 3, mRNA.	637					cellular amino acid metabolic process|ion transport	cytoplasm|integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	TGCCATTCAAGCAAATGACCA	0.423												
DOK2	9046	broad.mit.edu	37	8	21771096	21771096	+	Missense_Mutation	SNP	A	A	C			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr8:21771096A>C	uc003wzx.1	-	0	110	c.17T>G	c.(16-18)gTg>gGg	p.V6G	DOK2_uc003wzy.1_Missense_Mutation_p.V6G|DOK2_uc003wzz.1_5'UTR|DOK2_uc010lth.1_5'UTR	NM_003974	NP_003965	O60496	DOK2_HUMAN	Homo sapiens docking protein 2, 56kDa (DOK2), mRNA.	6	PH.				blood coagulation|leukocyte migration	cytosol	identical protein binding|insulin receptor binding			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(3)|skin(1)	26				Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608)		GCCTTGTTTCACTGCCCCGTC	0.582												
ELP3	55140	broad.mit.edu	37	8	27954764	27954764	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr8:27954764G>A	uc003xgo.4	+	1	196	c.48G>A	c.(46-48)atG>atA	p.M16I	ELP3_uc003xgn.4_Missense_Mutation_p.M1I|ELP3_uc011las.2_Intron|ELP3_uc011lat.2_5'UTR|ELP3_uc011laq.2_Intron|ELP3_uc011lar.2_5'UTR	NM_018091	NP_060561	Q9H9T3	ELP3_HUMAN	Homo sapiens elongation protein 3 homolog (S. cerevisiae) (ELP3), mRNA.	16					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	histone acetyltransferase activity|iron-sulfur cluster binding|metal ion binding|phosphorylase kinase regulator activity|protein binding			kidney(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.151)|Colorectal(74;0.183)		AGCTGATGATGCTGACTATAG	0.368												
PCMTD1	115294	broad.mit.edu	37	8	52733124	52733124	+	Silent	SNP	A	A	C			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr8:52733124A>C	uc003xqx.4	-	5	1202	c.861T>G	c.(859-861)acT>acG	p.T287T	PCMTD1_uc011ldm.2_Silent_p.T157T|PCMTD1_uc011ldn.2_Silent_p.T99T|PCMTD1_uc010lya.3_Silent_p.T211T	NM_052937	NP_443169	Q96MG8	PCMD1_HUMAN	Homo sapiens protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1 (PCMTD1), mRNA.	287						cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity			NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37		Lung NSC(129;0.0795)|all_lung(136;0.144)				CAAATACGTAAGTGTTAATTC	0.393												
REXO1L1	254958	broad.mit.edu	37	8	86573777	86573777	+	Silent	SNP	C	C	A			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr8:86573777C>A	uc022axf.1	-	0	1950	c.1950G>T	c.(1948-1950)gtG>gtT	p.V650V		NM_172239	NP_758439	Q8IX06	GOR_HUMAN	Homo sapiens REX1, RNA exonuclease 1 homolog (S. cerevisiae)-like 1 (REXO1L1), mRNA.	650						cytoplasm|nucleus	exonuclease activity|nucleic acid binding			endometrium(1)|lung(4)	5						CCTTCCACATCACCAGCTGCA	0.672												
ANGPT1	284	broad.mit.edu	37	8	108276567	108276567	+	Silent	SNP	T	T	C			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr8:108276567T>C	uc003ymn.3	-	7	1686	c.1218A>G	c.(1216-1218)aaA>aaG	p.K406K	ANGPT1_uc011lhv.2_Silent_p.K206K|ANGPT1_uc003ymo.3_Silent_p.K405K	NM_001146	NP_001137	Q15389	ANGP1_HUMAN	Homo sapiens angiopoietin 1 (ANGPT1), transcript variant 1, mRNA.	406	Fibrinogen C-terminal.				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of blood vessel endothelial cell migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis|Tie receptor signaling pathway	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding			NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			CAGTGTGACCTTTTAAATACA	0.393												
MAMDC2	256691	broad.mit.edu	37	9	72755159	72755159	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr9:72755159G>A	uc004ahm.2	+	7	1710	c.1093G>A	c.(1093-1095)Gta>Ata	p.V365I	MAMDC2_uc004ahn.2_Non-coding_Transcript	NM_153267	NP_694999	Q7Z304	MAMC2_HUMAN	Homo sapiens MAM domain containing 2 (MAMDC2), mRNA.	365	MAM 3.					endoplasmic reticulum|membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	14						CCGAGTGAAAGTAAAACCAAA	0.458												
NXF3	56000	broad.mit.edu	37	X	102339283	102339283	+	Missense_Mutation	SNP	C	C	G			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chrX:102339283C>G	uc004eju.3	-	2	409	c.338G>C	c.(337-339)tGg>tCg	p.W113S	NXF3_uc010noi.1_5'Flank|NXF3_uc011mrw.1_Missense_Mutation_p.W113S|NXF3_uc011mrx.1_Missense_Mutation_p.W24S	NM_022052	NP_071335	Q9H4D5	NXF3_HUMAN	Homo sapiens nuclear RNA export factor 3 (NXF3), mRNA.	113	RRM.					cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						GATCTTGAACCAGCTCCCTAA	0.463												
WDR44	54521	broad.mit.edu	37	X	117527112	117527112	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chrX:117527112G>A	uc004eqn.3	+	3	1135	c.704G>A	c.(703-705)cGc>cAc	p.R235H	WDR44_uc004eqo.3_Missense_Mutation_p.R235H|WDR44_uc011mtr.2_Missense_Mutation_p.R210H|WDR44_uc010nqi.3_5'UTR	NM_019045	NP_061918	Q5JSH3	WDR44_HUMAN	Homo sapiens WD repeat domain 44 (WDR44), transcript variant 1, mRNA.	235	Pro-rich.					cytosol|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm				breast(4)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	33						GTTCCAGCACGCCCACCTCCT	0.522												
STAG2	10735	broad.mit.edu	37	X	123176497	123176497	+	Splice_Site	SNP	T	T	C			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chrX:123176497T>C	uc004eua.3	+	7	866	c.462_splice	c.e7+2	p.E154_splice	STAG2_uc004etz.4_Splice_Site_p.E154_splice|STAG2_uc004eub.3_Splice_Site_p.E154_splice|STAG2_uc004euc.3_Splice_Site_p.E154_splice|STAG2_uc004eud.3_Splice_Site_p.E154_splice|STAG2_uc004eue.3_Splice_Site_p.E154_splice	NM_001042749	NP_001036215	Q8N3U4	STAG2_HUMAN	Homo sapiens stromal antigen 2 (STAG2), transcript variant 1, mRNA.	154					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						TTCGATGAGGTAACTTACTAC	0.333												
GPC4	2239	broad.mit.edu	37	X	132458560	132458560	+	Silent	SNP	G	G	A			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chrX:132458560G>A	uc004exc.1	-	2	536	c.324C>T	c.(322-324)ttC>ttT	p.F108F	GPC4_uc011mvg.1_Silent_p.F38F	NM_001448	NP_001439	O75487	GPC4_HUMAN	Homo sapiens glypican 4 (GPC4), mRNA.	108					anatomical structure morphogenesis|cell proliferation	anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;0.000127)					GTTCTTTGAAGAATTCTGAAA	0.294												
SPANXC	64663	broad.mit.edu	37	X	140335819	140335820	+	Frame_Shift_Ins	INS	-	-	T	rs57835830	byFrequency	TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chrX:140335819_140335820insT	uc004fbk.3	-	1	180_181	c.124_125insA	c.(124-126)atgfs	p.M42fs	SPANXC_uc004fbl.3_Non-coding_Transcript	NM_022661	NP_073152	Q9NY87	SPNXC_HUMAN	Homo sapiens SPANX family, member C (SPANXC), mRNA.	42						cytoplasm|nucleus		p.M42L(2)|p.M42I(1)		large_intestine(2)|lung(3)|pancreas(1)	6	Acute lymphoblastic leukemia(192;7.65e-05)					AGATGTTTTCATTTTTTTAGGA	0.500												
WASH6P	653440	broad.mit.edu	37	X	155254706	155254706	+	Missense_Mutation	SNP	C	C	T			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chrX:155254706C>T	uc022cip.1	+	5	806	c.602C>T	c.(601-603)aCg>aTg	p.T201M						RecName: Full=WAS protein family homolog 6; AltName: Full=Protein FAM39A;									p.T415M(2)									GTGAGAGCCACGAGCCAAGGT	0.637