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	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
LOC283788	283788	broad.mit.edu	37	GL000219.1	83307	83307	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5790-01A-11D-1576-08	TCGA-CH-5790-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1730f32-f97d-49e7-beb7-593c8ca8a907	c66f09bd-db15-4633-aeba-4f579345c6d0	g.chrGL000219.1:83307G>T	uc022brb.1	-	3	360	c.47C>A	c.(46-48)gCt>gAt	p.A16D	LOC283788_uc011mfq.2_Non-coding_Transcript					Homo sapiens FSHD region gene 1 pseudogene (LOC283788), non-coding RNA.																		GGCCAACAAAGCCATTTTCCC	0.373000													4	27					0	0	1	0	0
GPATCH1	55094	broad.mit.edu	37	19	33584366	33584366	+	Silent	SNP	C	C	T	rs139698891		TCGA-CH-5790-01A-11D-1576-08	TCGA-CH-5790-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1730f32-f97d-49e7-beb7-593c8ca8a907	c66f09bd-db15-4633-aeba-4f579345c6d0	g.chr19:33584366C>T	uc002nug.1	+	3	710	c.396C>T	c.(394-396)gcC>gcT	p.A132A		NM_018025	NP_060495	Q9BRR8	GPTC1_HUMAN	Homo sapiens G patch domain containing 1 (GPATCH1), mRNA.	132						catalytic step 2 spliceosome	nucleic acid binding	p.A132A(2)		breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					GGCAGTTGGCCGCTGCTACTG	0.488000													56	99					0	0	1	0	0
SNTB1	6641	broad.mit.edu	37	8	121823678	121823678	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5790-01A-11D-1576-08	TCGA-CH-5790-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1730f32-f97d-49e7-beb7-593c8ca8a907	c66f09bd-db15-4633-aeba-4f579345c6d0	g.chr8:121823678G>A	uc010mdg.3	-	0	632	c.406C>T	c.(406-408)Ccc>Tcc	p.P136S	SNTB1_uc003ype.3_Missense_Mutation_p.P136S	NM_021021	NP_066301	Q13884	SNTB1_HUMAN	Homo sapiens syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1) (SNTB1), mRNA.	136	PDZ.|PH 1.				muscle contraction	cell junction|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|calmodulin binding	p.P136S(2)		NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(6)	24	Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)		STAD - Stomach adenocarcinoma(47;0.00503)			ATGAGGATGGGCATCTTGTTC	0.637000													4	69					0	0	1	0	0
AK022914	0	broad.mit.edu	37	22	16150968	16150968	+	RNA	SNP	C	C	T	rs138311033	by1000genomes	TCGA-CH-5790-01A-11D-1576-08	TCGA-CH-5790-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1730f32-f97d-49e7-beb7-593c8ca8a907	c66f09bd-db15-4633-aeba-4f579345c6d0	g.chr22:16150968C>T	uc002zks.4	-	7		c.1689G>A								Homo sapiens cDNA FLJ12852 fis, clone NT2RP2003445.																		CAAATTTGGACTCTTGACTCT	0.403000													5	15					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152284212	152284212	+	Silent	SNP	C	C	T	rs149376159		TCGA-CH-5790-01A-11D-1576-08	TCGA-CH-5790-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1730f32-f97d-49e7-beb7-593c8ca8a907	c66f09bd-db15-4633-aeba-4f579345c6d0	g.chr1:152284212C>T	uc001ezu.1	-	2	3186	c.3150G>A	c.(3148-3150)ccG>ccA	p.P1050P	AK056431_uc001ezv.3_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	1050	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.P1050P(2)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTTGTCTGCGCGGAATGCCTG	0.562000									Ichthyosis				33	672					0	0	1	0	0
TRBV5-1	28614	broad.mit.edu	37	7	142021350	142021350	+	Silent	SNP	C	C	T			TCGA-CH-5790-01A-11D-1576-08	TCGA-CH-5790-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1730f32-f97d-49e7-beb7-593c8ca8a907	c66f09bd-db15-4633-aeba-4f579345c6d0	g.chr7:142021350C>T	uc011krr.1	+	1	515	c.330C>T	c.(328-330)tgC>tgT	p.C110C	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krq.1_Silent_p.C110C					SubName: Full=V_segment translation product; Flags: Fragment;																		TTTATCTTTGCGCCAGCAGCT	0.547000													20	49					0	0	1	0	0
AKAP12	9590	broad.mit.edu	37	6	151672372	151672372	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5790-01A-11D-1576-08	TCGA-CH-5790-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1730f32-f97d-49e7-beb7-593c8ca8a907	c66f09bd-db15-4633-aeba-4f579345c6d0	g.chr6:151672372C>T	uc011eep.2	+	3	3086	c.2846C>T	c.(2845-2847)aCg>aTg	p.T949M	AKAP12_uc003qoe.3_Missense_Mutation_p.T949M|AKAP12_uc003qof.3_Missense_Mutation_p.T851M|AKAP12_uc010kim.3_Intron|AKAP12_uc003qog.3_Missense_Mutation_p.T844M	NM_005100	NP_005091	Q02952	AKA12_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 12 (AKAP12), transcript variant 1, mRNA.	949					G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding	p.T949M(2)		breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		GAACCCCCCACGGTTACTGAA	0.527000													5	136					0	0	1	0	0
WDR96	80217	broad.mit.edu	37	10	105922136	105922136	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5790-01A-11D-1576-08	TCGA-CH-5790-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1730f32-f97d-49e7-beb7-593c8ca8a907	c66f09bd-db15-4633-aeba-4f579345c6d0	g.chr10:105922136G>A	uc001kxw.3	-	24	3388	c.3272C>T	c.(3271-3273)cCg>cTg	p.P1091L	WDR96_uc009xxq.3_Missense_Mutation_p.P399L	NM_025145	NP_079421	Q8NDM7	WDR96_HUMAN	Homo sapiens WD repeat domain 96 (WDR96), mRNA.	1091								p.P1091L(4)		NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						TTTGTGCCACGGCTTAATGTG	0.403000													5	182					0	0	1	0	0
KIFC2	90990	broad.mit.edu	37	8	145693004	145693004	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5790-01A-11D-1576-08	TCGA-CH-5790-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1730f32-f97d-49e7-beb7-593c8ca8a907	c66f09bd-db15-4633-aeba-4f579345c6d0	g.chr8:145693004C>G	uc003zcz.3	+	4	671	c.606C>G	c.(604-606)atC>atG	p.I202M	CYHR1_uc003zcv.2_5'Flank|CYHR1_uc003zcw.2_5'Flank|CYHR1_uc003zcx.2_5'Flank|CYHR1_uc003zcy.2_5'Flank	NM_145754	NP_665697	Q96AC6	KIFC2_HUMAN	Homo sapiens kinesin family member C2 (KIFC2), mRNA.	202	Gln-rich.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding	p.I202M(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(3)|prostate(3)|skin(2)|urinary_tract(1)	19	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			AGCAGCTCATCCTGGGACAGG	0.647000											OREG0019057	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	61					0	0	1	0	0
ADCY9	115	broad.mit.edu	37	16	4016225	4016225	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5790-01A-11D-1576-08	TCGA-CH-5790-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1730f32-f97d-49e7-beb7-593c8ca8a907	c66f09bd-db15-4633-aeba-4f579345c6d0	g.chr16:4016225G>A	uc002cvx.3	-	10	4152	c.3613C>T	c.(3613-3615)Cgc>Tgc	p.R1205C		NM_001116	NP_001107	O60503	ADCY9_HUMAN	Homo sapiens adenylate cyclase 9 (ADCY9), mRNA.	1205					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	ATP binding|adenylate cyclase activity|metal ion binding	p.R1205C(2)		breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						ACCTGGATGCGGCACTCCACG	0.597000													7	176					0	0	1	0	0
OR10A4	283297	broad.mit.edu	37	11	6898608	6898608	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5790-01A-11D-1576-08	TCGA-CH-5790-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1730f32-f97d-49e7-beb7-593c8ca8a907	c66f09bd-db15-4633-aeba-4f579345c6d0	g.chr11:6898608G>A	uc010rat.2	+	0	753	c.730G>A	c.(730-732)Gcc>Acc	p.A244T		NM_207186	NP_997069	Q9H209	O10A4_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 4 (OR10A4), mRNA.	244					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A244T(4)		kidney(1)|large_intestine(2)|liver(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CACCTGTTCCGCCCACCTCTT	0.527000													15	157					0	0	1	0	0
NAV2	89797	broad.mit.edu	37	11	20119232	20119232	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5790-01A-11D-1576-08	TCGA-CH-5790-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1730f32-f97d-49e7-beb7-593c8ca8a907	c66f09bd-db15-4633-aeba-4f579345c6d0	g.chr11:20119232A>G	uc010rdm.2	+	32	6651	c.6290A>G	c.(6289-6291)gAg>gGg	p.E2097G	NAV2_uc001mpp.3_Missense_Mutation_p.E1977G|NAV2_uc001mpr.4_Missense_Mutation_p.E2041G|NAV2_uc021qew.1_Missense_Mutation_p.E2044G|NAV2_uc009yhx.3_Missense_Mutation_p.E1105G|NAV2_uc009yhz.3_Missense_Mutation_p.E686G|NAV2_uc001mpu.3_Missense_Mutation_p.E479G	NM_001244963	NP_001231892	Q8IVL1	NAV2_HUMAN	Homo sapiens neuron navigator 2 (NAV2), transcript variant 5, mRNA.	2100						nucleus	ATP binding|helicase activity	p.E2100G(1)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						GAAACACCGGAGCTGCTTCCT	0.493000													8	135					0	0	1	0	0
PTPRM	5797	broad.mit.edu	37	18	8113637	8113637	+	Silent	SNP	C	C	A			TCGA-CH-5790-01A-11D-1576-08	TCGA-CH-5790-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1730f32-f97d-49e7-beb7-593c8ca8a907	c66f09bd-db15-4633-aeba-4f579345c6d0	g.chr18:8113637C>A	uc002knn.4	+	11	2513	c.2010C>A	c.(2008-2010)ctC>ctA	p.L670L	PTPRM_uc010dkv.3_Silent_p.L670L|PTPRM_uc010wzl.2_Silent_p.L457L	NM_002845	NP_002836	P28827	PTPRM_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, M (PTPRM), transcript variant 2, mRNA.	670	Fibronectin type-III 4.				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity	p.L670L(3)		breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				CAGACAGCCTCCAAGCTGCGC	0.423000													93	114					0	0	1	0	0
SPDYE7P	441251	broad.mit.edu	37	7	72336988	72336988	+	RNA	SNP	G	G	A			TCGA-CH-5790-01A-11D-1576-08	TCGA-CH-5790-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1730f32-f97d-49e7-beb7-593c8ca8a907	c66f09bd-db15-4633-aeba-4f579345c6d0	g.chr7:72336988G>A	uc010lal.1	-	0		c.2668C>T								Homo sapiens speedy homolog E7 (Xenopus laevis), pseudogene (SPDYE7P), non-coding RNA.																		AGGCCGGCCCGGCTGAAATAC	0.522000													7	300					0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139278045	139278045	+	Silent	SNP	G	G	A			TCGA-CH-5790-01A-11D-1576-08	TCGA-CH-5790-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1730f32-f97d-49e7-beb7-593c8ca8a907	c66f09bd-db15-4633-aeba-4f579345c6d0	g.chr8:139278045G>A	uc003yuy.3	-	3	369	c.198C>T	c.(196-198)acC>acT	p.T66T	FAM135B_uc003yux.3_5'UTR|FAM135B_uc003yuz.3_Non-coding_Transcript	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	66								p.T66T(3)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GGCTGTGCACGGTGCTGTCAT	0.502000										HNSCC(54;0.14)			3	78					0	0	1	0	0
AKNAD1	254268	broad.mit.edu	37	1	109369914	109369914	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5790-01A-11D-1576-08	TCGA-CH-5790-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1730f32-f97d-49e7-beb7-593c8ca8a907	c66f09bd-db15-4633-aeba-4f579345c6d0	g.chr1:109369914C>T	uc001dwa.3	-	10	2118	c.1849G>A	c.(1849-1851)Gtg>Atg	p.V617M	AKNAD1_uc010ovb.2_Missense_Mutation_p.V324M|AKNAD1_uc001dwb.3_Non-coding_Transcript	NM_152763	NP_689976	Q5T1N1	AKND1_HUMAN	Homo sapiens AKNA domain containing 1 (AKNAD1), mRNA.	617								p.V617M(2)|p.N616K(1)|p.N616Y(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						TTTTTCTCCACGTTTTGCTTC	0.383000													21	230					0	0	1	0	0
TMEM214	54867	broad.mit.edu	37	2	27258872	27258872	+	Silent	SNP	G	G	A			TCGA-CH-5790-01A-11D-1576-08	TCGA-CH-5790-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1730f32-f97d-49e7-beb7-593c8ca8a907	c66f09bd-db15-4633-aeba-4f579345c6d0	g.chr2:27258872G>A	uc002ria.4	+	4	782	c.672G>A	c.(670-672)caG>caA	p.Q224Q	TMEM214_uc002rib.4_Silent_p.Q179Q	NM_017727	NP_060197	Q6NUQ4	TM214_HUMAN	Homo sapiens transmembrane protein 214 (TMEM214), transcript variant 1, mRNA.	224						integral to membrane	protein binding	p.Q224Q(2)|p.I223I(1)		kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						TCTGTATCCAGGCCATCCTGC	0.517000													18	44					0	0	1	0	0
MLH3	27030	broad.mit.edu	37	14	75515946	75515946	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5790-01A-11D-1576-08	TCGA-CH-5790-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1730f32-f97d-49e7-beb7-593c8ca8a907	c66f09bd-db15-4633-aeba-4f579345c6d0	g.chr14:75515946G>C	uc001xrd.1	-	1	629	c.413C>G	c.(412-414)aCt>aGt	p.T138S	MLH3_uc001xre.1_Missense_Mutation_p.T138S|MLH3_uc010tuy.1_Non-coding_Transcript	NM_001040108	NP_001035197	Q9UHC1	MLH3_HUMAN	Homo sapiens mutL homolog 3 (E. coli) (MLH3), transcript variant 1, mRNA.	138					mismatch repair|reciprocal meiotic recombination	MutLbeta complex|chiasma|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding	p.T138S(3)		breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		GCTTGCTCTAGTCACATCAGC	0.428000								Mismatch excision repair (MMR)					10	186					0	0	1	0	0
GNB3	2784	broad.mit.edu	37	12	6950751	6950751	+	Splice_Site	SNP	A	A	G			TCGA-CH-5790-01A-11D-1576-08	TCGA-CH-5790-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1730f32-f97d-49e7-beb7-593c8ca8a907	c66f09bd-db15-4633-aeba-4f579345c6d0	g.chr12:6950751A>G	uc001qrd.3	+	4	463	c.58_splice	c.e4-1	p.D20_splice	GNB3_uc001qrc.3_5'UTR|GNB3_uc009zfe.3_Splice_Site_p.D20_splice	NM_002075	NP_002066	P16520	GBB3_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), beta polypeptide 3 (GNB3), mRNA.	20					G-protein coupled receptor protein signaling pathway|cellular response to glucagon stimulus|energy reserve metabolic process|regulation of blood pressure|synaptic transmission	plasma membrane	GTPase activity|GTPase binding|signal transducer activity	p.D20G(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|stomach(1)	20						TCCCTGCAGGATGCCAGGAAA	0.667000													12	28					0	0	1	0	0
ALDH1A2	8854	broad.mit.edu	37	15	58306075	58306075	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5790-01A-11D-1576-08	TCGA-CH-5790-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1730f32-f97d-49e7-beb7-593c8ca8a907	c66f09bd-db15-4633-aeba-4f579345c6d0	g.chr15:58306075C>G	uc002aex.3	-	2	617	c.344G>C	c.(343-345)cGg>cCg	p.R115P	ALDH1A2_uc010ugv.2_Missense_Mutation_p.R94P|ALDH1A2_uc002aey.3_Missense_Mutation_p.R115P|ALDH1A2_uc010ugw.2_Missense_Mutation_p.R86P|ALDH1A2_uc002aew.3_Missense_Mutation_p.R19P	NM_003888	NP_733798	O94788	AL1A2_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member A2 (ALDH1A2), transcript variant 1, mRNA.	115					negative regulation of cell proliferation|neural tube development|response to cytokine stimulus	nucleus	3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity	p.R115P(2)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	TGCCCTGTCCCGTTCCACCAA	0.458000													19	532					0	0	1	0	0
KIF5B	3799	broad.mit.edu	37	10	32337438	32337438	+	Silent	SNP	T	T	C			TCGA-CH-5790-01A-11D-1576-08	TCGA-CH-5790-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1730f32-f97d-49e7-beb7-593c8ca8a907	c66f09bd-db15-4633-aeba-4f579345c6d0	g.chr10:32337438T>C	uc001iwe.4	-	1	638	c.168A>G	c.(166-168)acA>acG	p.T56T		NM_004521	NP_004512	P33176	KINH_HUMAN	Homo sapiens kinesin family member 5B (KIF5B), mRNA.	56	Kinesin-motor.				stress granule disassembly|vesicle transport along microtubule	kinesin complex|microtubule|perinuclear region of cytoplasm|vesicle	ATP binding|microtubule binding|microtubule motor activity	p.T56T(2)|p.T56A(1)	KIF5B/ALK(8)|KIF5B/RET(79)	NS(2)|breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)	35		Prostate(175;0.0137)				GCTCTTGAGATGTGCTTGACT	0.338000			T	"""RET, ALK"""	NSCLC								5	134					0	0	1	0	0
ASB2	51676	broad.mit.edu	37	14	94420665	94420665	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5790-01A-11D-1576-08	TCGA-CH-5790-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1730f32-f97d-49e7-beb7-593c8ca8a907	c66f09bd-db15-4633-aeba-4f579345c6d0	g.chr14:94420665C>T	uc001ycd.3	-	3	846	c.476G>A	c.(475-477)cGa>cAa	p.R159Q	ASB2_uc001ycc.2_Missense_Mutation_p.R111Q|ASB2_uc001yce.1_Missense_Mutation_p.R57Q	NM_001202429	NP_001189358	Q96Q27	ASB2_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 2 (ASB2), transcript variant 1, mRNA.	111					intracellular signal transduction			p.R111Q(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1)	27		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)		GCCCTCACCTCGCTGCAGGAC	0.612000													4	76					0	0	1	0	0
PCK2	5106	broad.mit.edu	37	14	24572967	24572967	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5790-01A-11D-1576-08	TCGA-CH-5790-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1730f32-f97d-49e7-beb7-593c8ca8a907	c66f09bd-db15-4633-aeba-4f579345c6d0	g.chr14:24572967A>G	uc001wlt.3	+	9	1849	c.1717A>G	c.(1717-1719)Att>Gtt	p.I573V	NRL_uc001wlq.3_Intron|PCK2_uc010tnw.2_Missense_Mutation_p.I439V|PCK2_uc010tnx.2_Missense_Mutation_p.I439V|PCK2_uc001wlu.4_Missense_Mutation_p.I407V	NM_004563	NP_004554	Q16822	PCKGM_HUMAN	Homo sapiens phosphoenolpyruvate carboxykinase 2 (mitochondrial) (PCK2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	573					gluconeogenesis	mitochondrial matrix	GTP binding|metal ion binding|phosphoenolpyruvate carboxykinase (GTP) activity	p.I573V(2)		breast(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(265;0.0184)		AGAGACACCCATTGGGCTGGT	0.607000													41	65					0	0	1	0	0
SUSD1	64420	broad.mit.edu	37	9	114840901	114840901	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5790-01A-11D-1576-08	TCGA-CH-5790-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1730f32-f97d-49e7-beb7-593c8ca8a907	c66f09bd-db15-4633-aeba-4f579345c6d0	g.chr9:114840901C>T	uc010mui.3	-	11	1711	c.1670G>A	c.(1669-1671)cGt>cAt	p.R557H	MIR3134_uc022bma.1_Intron|SUSD1_uc004bfu.3_Missense_Mutation_p.R557H|SUSD1_uc010muj.3_Missense_Mutation_p.R557H			Q6UWL2	SUSD1_HUMAN	Homo sapiens sushi domain containing 1 (SUSD1), mRNA.	557						integral to membrane	calcium ion binding	p.R557H(2)|p.L556P(1)	SUSD1/ROD1(2)	central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						GGTACCCGGACGTAGGTCCAA	0.493000													13	122					0	0	1	0	0
MAPRE1	22919	broad.mit.edu	37	20	31427559	31427559	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CH-5790-01A-11D-1576-08	TCGA-CH-5790-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1730f32-f97d-49e7-beb7-593c8ca8a907	c66f09bd-db15-4633-aeba-4f579345c6d0	g.chr20:31427559C>G	uc002wyh.3	+	4	633	c.494C>G	c.(493-495)tCa>tGa	p.S165*		NM_012325	NP_036457	Q15691	MARE1_HUMAN	Homo sapiens microtubule-associated protein, RP/EB family, member 1 (MAPRE1), mRNA.	165	Interaction with MTUS2/TIP150.				G2/M transition of mitotic cell cycle|cell division|cell proliferation|mitotic prometaphase|negative regulation of microtubule polymerization|protein localization to microtubule	centrosome|cortical microtubule cytoskeleton|cytosol	microtubule plus-end binding|protein C-terminus binding	p.S165*(2)		endometrium(2)|large_intestine(1)|lung(3)|prostate(2)	8						AGGCCCATCTCAACACAGAGA	0.527000													12	457					0	0	1	0	0
CASP1	834	broad.mit.edu	37	11	104897573	104897573	+	Missense_Mutation	SNP	C	C	T	rs148018877		TCGA-CH-5790-01A-11D-1576-08	TCGA-CH-5790-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1730f32-f97d-49e7-beb7-593c8ca8a907	c66f09bd-db15-4633-aeba-4f579345c6d0	g.chr11:104897573C>T	uc001pim.4	-	7	1112	c.1112G>A	c.(1111-1113)cGc>cAc	p.R371H	CASP1_uc001pig.3_Missense_Mutation_p.R278H|CASP1_uc021qpq.1_Missense_Mutation_p.R350H|CASP1_uc021qpr.1_Missense_Mutation_p.R230H|CASP1_uc021qps.1_Missense_Mutation_p.R55H|CASP1_uc021qpp.1_Missense_Mutation_p.R371H|CASP1_uc021qpt.1_Missense_Mutation_p.R278H|CASP1_uc010rve.2_Missense_Mutation_p.R371H|CASP1_uc010rvf.2_Missense_Mutation_p.R278H|CASP1_uc010rvg.2_Missense_Mutation_p.R350H|CASP1_uc010rvh.2_Missense_Mutation_p.R230H|CASP1_uc010rvi.2_Missense_Mutation_p.R55H|CASP1_uc009yxi.3_Missense_Mutation_p.R350H|CASP1_uc021qpu.1_Missense_Mutation_p.R278H|CASP1_uc021qpv.1_Missense_Mutation_p.R350H|CASP1_uc021qpw.1_Missense_Mutation_p.R230H|CASP1_uc021qpx.1_Missense_Mutation_p.R55H|CASP1_uc010rvj.2_Missense_Mutation_p.R371H|CASP1_uc009yxj.3_Missense_Mutation_p.R216H|CASP1_uc010rvk.2_3'UTR	NM_033292	NP_150634	P29466	CASP1_HUMAN	Homo sapiens caspase 1, apoptosis-related cysteine peptidase (interleukin 1, beta, convertase) (CASP1), transcript variant alpha, mRNA.	371					cellular response to mechanical stimulus|cellular response to organic substance|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis|signal transduction	cytosol	caspase activator activity|cysteine-type endopeptidase activity|protein binding	p.R371H(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482)	Minocycline(DB01017)|Penicillamine(DB00859)	TCTTACCTTGCGGAAAATTTC	0.408000													8	118					0	0	1	0	0
PLCH2	9651	broad.mit.edu	37	1	2415902	2415902	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5790-01A-11D-1576-08	TCGA-CH-5790-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1730f32-f97d-49e7-beb7-593c8ca8a907	c66f09bd-db15-4633-aeba-4f579345c6d0	g.chr1:2415902G>A	uc001aji.1	+	4	932	c.658G>A	c.(658-660)Gac>Aac	p.D220N	PLCH2_uc010nyz.2_Missense_Mutation_p.D9N|PLCH2_uc009vle.1_Missense_Mutation_p.D9N|PLCH2_uc001ajj.1_Missense_Mutation_p.D9N|PLCH2_uc001ajk.1_Missense_Mutation_p.D9N	NM_014638	NP_055453	O75038	PLCH2_HUMAN	Homo sapiens phospholipase C, eta 2 (PLCH2), mRNA.	221	EF-hand 2.				intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	p.D221N(1)|p.D68N(1)		central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		GGACACGGATGACCACCAAGG	0.597000													20	32					0	0	1	0	0
GRM2	2912	broad.mit.edu	37	3	51746689	51746689	+	Silent	SNP	C	C	T			TCGA-CH-5790-01A-11D-1576-08	TCGA-CH-5790-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1730f32-f97d-49e7-beb7-593c8ca8a907	c66f09bd-db15-4633-aeba-4f579345c6d0	g.chr3:51746689C>T	uc010hlv.3	+	2	890	c.651C>T	c.(649-651)ggC>ggT	p.G217G	GRM2_uc003dbo.4_Intron|GRM2_uc010hlu.3_Non-coding_Transcript	NM_000839	NP_000830	Q14416	GRM2_HUMAN	Homo sapiens glutamate receptor, metabotropic 2 (GRM2), transcript variant 1, mRNA.	217					synaptic transmission	integral to plasma membrane		p.G217G(4)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acamprosate(DB00659)|Nicotine(DB00184)	GCGACTATGGCGAGACAGGCA	0.597000													5	122					0	0	1	0	0
HDAC8	55869	broad.mit.edu	37	X	71787745	71787745	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5790-01A-11D-1576-08	TCGA-CH-5790-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1730f32-f97d-49e7-beb7-593c8ca8a907	c66f09bd-db15-4633-aeba-4f579345c6d0	g.chrX:71787745G>C	uc004eau.3	-	3	773	c.431C>G	c.(430-432)gCa>gGa	p.A144G	HDAC8_uc011mqe.2_Missense_Mutation_p.Q2E|HDAC8_uc011mqg.2_Intron|HDAC8_uc011mqf.2_Intron|HDAC8_uc011mqh.2_Intron|HDAC8_uc010nlk.2_Missense_Mutation_p.A15G|HDAC8_uc004eav.3_Missense_Mutation_p.A144G|HDAC8_uc022byv.1_Intron|HDAC8_uc022byw.1_Missense_Mutation_p.A144G|HDAC8_uc022byx.1_Missense_Mutation_p.A144G	NM_018486	NP_060956	Q9BY41	HDAC8_HUMAN	Homo sapiens histone deacetylase 8 (HDAC8), transcript variant 1, mRNA.	144	Histone deacetylase.				chromatin assembly or disassembly|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|nuclear chromosome	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity (H3-K16 specific)|metal ion binding|transcription factor binding	p.A144G(2)		breast(3)|cervix(1)|endometrium(1)|lung(4)|prostate(1)	10	Renal(35;0.156)				Vorinostat(DB02546)	TTACTTCTTTGCATGATGCCA	0.418000													11	122					0	0	1	0	0
DMXL1	1657	broad.mit.edu	37	5	118469852	118469852	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5790-01A-11D-1576-08	TCGA-CH-5790-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1730f32-f97d-49e7-beb7-593c8ca8a907	c66f09bd-db15-4633-aeba-4f579345c6d0	g.chr5:118469852C>G	uc010jcl.1	+	11	2414	c.2233C>G	c.(2233-2235)Ctt>Gtt	p.L745V	DMXL1_uc003ksd.2_Missense_Mutation_p.L745V|DMXL1_uc021ycw.1_Missense_Mutation_p.L572V|DMXL1_uc003ksc.1_Missense_Mutation_p.L745V	NM_005509	NP_005500	Q9Y485	DMXL1_HUMAN	Homo sapiens Dmx-like 1 (DMXL1), mRNA.	745								p.L745V(2)		breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		GCTGCCCACTCTTATACCCAG	0.383000													8	242					0	0	1	0	0
CEACAM6	4680	broad.mit.edu	37	19	42259586	42259586	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5790-01A-11D-1576-08	TCGA-CH-5790-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1730f32-f97d-49e7-beb7-593c8ca8a907	c66f09bd-db15-4633-aeba-4f579345c6d0	g.chr19:42259586C>A	uc002orm.2	+	0	189	c.40C>A	c.(40-42)Ccc>Acc	p.P14T		NM_002483	NP_002474	P40199	CEAM6_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen) (CEACAM6), mRNA.	14					cell-cell signaling|signal transduction	anchored to membrane|integral to plasma membrane		p.P14T(2)		breast(1)|kidney(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797)		ATTGCATGTCCCCTGGAAGGA	0.607000													5	97					0	0	1	0	0
IRAK2	3656	broad.mit.edu	37	3	10251301	10251301	+	Silent	SNP	G	G	A			TCGA-CH-5790-01A-11D-1576-08	TCGA-CH-5790-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1730f32-f97d-49e7-beb7-593c8ca8a907	c66f09bd-db15-4633-aeba-4f579345c6d0	g.chr3:10251301G>A	uc003bve.1	+	3	529	c.453G>A	c.(451-453)ccG>ccA	p.P151P		NM_001570	NP_001561	O43187	IRAK2_HUMAN	Homo sapiens interleukin-1 receptor-associated kinase 2 (IRAK2), mRNA.	151					I-kappaB kinase/NF-kappaB cascade|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|inflammatory response|innate immune response|interleukin-1-mediated signaling pathway|negative regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|endosome membrane|plasma membrane	ATP binding|NF-kappaB-inducing kinase activity|protein heterodimerization activity|protein homodimerization activity	p.P151P(3)		breast(4)|large_intestine(8)|lung(11)|prostate(1)|stomach(1)	25						CCCACCAGCCGGCCTTTCTCC	0.597000													7	275					0	0	1	0	0
ADAMTSL5	339366	broad.mit.edu	37	19	1507384	1507384	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5790-01A-11D-1576-08	TCGA-CH-5790-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1730f32-f97d-49e7-beb7-593c8ca8a907	c66f09bd-db15-4633-aeba-4f579345c6d0	g.chr19:1507384G>A	uc010xgq.1	-	9	1058	c.739C>T	c.(739-741)Cgc>Tgc	p.R247C	ADAMTSL5_uc010dsl.2_Missense_Mutation_p.R6C|ADAMTSL5_uc002ltd.2_Missense_Mutation_p.R237C	NM_213604	NP_998769	Q6ZMM2	ATL5_HUMAN	Homo sapiens ADAMTS-like 5 (ADAMTSL5), mRNA.	237						proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.R237C(1)		cervix(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	10		Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCACGTAGCGCCCATCGCCC	0.657000													11	82					0	0	1	0	0
SLC38A1	81539	broad.mit.edu	37	12	46594935	46594935	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5790-01A-11D-1576-08	TCGA-CH-5790-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1730f32-f97d-49e7-beb7-593c8ca8a907	c66f09bd-db15-4633-aeba-4f579345c6d0	g.chr12:46594935C>T	uc009zkj.1	-	12	1634	c.949G>A	c.(949-951)Gcc>Acc	p.A317T	SLC38A1_uc001rpb.3_Missense_Mutation_p.A317T|SLC38A1_uc001rpc.3_Missense_Mutation_p.A317T|SLC38A1_uc001rpd.3_Missense_Mutation_p.A317T|SLC38A1_uc001rpe.3_Missense_Mutation_p.A317T|SLC38A1_uc010slh.2_Missense_Mutation_p.A290T|SLC38A1_uc001rpa.3_Missense_Mutation_p.A317T	NM_030674	NP_109599	Q9H2H9	S38A1_HUMAN	Homo sapiens solute carrier family 38, member 1 (SLC38A1), transcript variant 1, mRNA.	317					cellular nitrogen compound metabolic process|neurotransmitter uptake	integral to membrane|plasma membrane	sodium:amino acid symporter activity	p.A317T(2)		NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)			ACAAACATGGCGAAAAAGGAG	0.289000													14	29					0	0	1	0	0
KCNB2	9312	broad.mit.edu	37	8	73848458	73848458	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5790-01A-11D-1576-08	TCGA-CH-5790-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1730f32-f97d-49e7-beb7-593c8ca8a907	c66f09bd-db15-4633-aeba-4f579345c6d0	g.chr8:73848458G>A	uc003xzb.3	+	2	1456	c.868G>A	c.(868-870)Gtg>Atg	p.V290M		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	290					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	p.V290M(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			CAACAAGAGCGTGCTGCAGTT	0.502000													9	124					0	0	1	0	0
ARIH1	25820	broad.mit.edu	37	15	72873082	72873082	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5790-01A-11D-1576-08	TCGA-CH-5790-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1730f32-f97d-49e7-beb7-593c8ca8a907	c66f09bd-db15-4633-aeba-4f579345c6d0	g.chr15:72873082C>A	uc002aut.4	+	11	1540	c.1226C>A	c.(1225-1227)gCa>gAa	p.A409E		NM_005744	NP_005735	Q9Y4X5	ARI1_HUMAN	Homo sapiens ariadne homolog, ubiquitin-conjugating enzyme E2 binding protein, 1 (Drosophila) (ARIH1), mRNA.	409					ubiquitin-dependent protein catabolic process	cytoplasm|ubiquitin ligase complex	ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	p.A409E(7)		endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	14						CGATCTAGGGCAGCCCTGCAG	0.383000													8	66					0	0	1	0	0
GRM1	2911	broad.mit.edu	37	6	146480672	146480672	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CH-5790-01A-11D-1576-08	TCGA-CH-5790-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1730f32-f97d-49e7-beb7-593c8ca8a907	c66f09bd-db15-4633-aeba-4f579345c6d0	g.chr6:146480672C>T	uc010khw.1	+	2	1359	c.889C>T	c.(889-891)Cga>Tga	p.R297*	GRM1_uc010khu.1_Nonsense_Mutation_p.R297*|GRM1_uc010khv.1_Nonsense_Mutation_p.R297*|GRM1_uc003qll.2_Nonsense_Mutation_p.R297*|GRM1_uc011edz.1_Nonsense_Mutation_p.R297*|GRM1_uc011eea.1_Nonsense_Mutation_p.R297*	NM_000838	NP_000829	Q13255	GRM1_HUMAN	Homo sapiens glutamate receptor, metabotropic 1 (GRM1), transcript variant 1, mRNA.	297					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	p.R297*(5)		NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	CATGACAGTGCGAGGACTCCT	0.567000													4	61					0	0	1	0	0
COL7A1	1294	broad.mit.edu	37	3	48624753	48624753	+	Silent	SNP	C	C	T			TCGA-CH-5790-01A-11D-1576-08	TCGA-CH-5790-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1730f32-f97d-49e7-beb7-593c8ca8a907	c66f09bd-db15-4633-aeba-4f579345c6d0	g.chr3:48624753C>T	uc003ctz.2	-	22	3010	c.3009G>A	c.(3007-3009)ccG>ccA	p.P1003P		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA.	1003	Fibronectin type-III 9.|Nonhelical region (NC1).				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	p.P1003P(2)		NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GAAGTGTCTGCGGGGACCCAG	0.602000													3	31					0	0	1	0	0
IRF8	3394	broad.mit.edu	37	16	85936702	85936702	+	Silent	SNP	T	T	C			TCGA-CH-5790-01A-11D-1576-08	TCGA-CH-5790-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1730f32-f97d-49e7-beb7-593c8ca8a907	c66f09bd-db15-4633-aeba-4f579345c6d0	g.chr16:85936702T>C	uc002fjh.3	+	1	138	c.81T>C	c.(79-81)atT>atC	p.I27I	IRF8_uc002fji.3_Silent_p.I27I	NM_002163	NP_002154	Q02556	IRF8_HUMAN	Homo sapiens interferon regulatory factor 8 (IRF8), mRNA.	27					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	p.I27I(2)		breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	24		Prostate(104;0.0771)				CAGGACTGATTTGGGAGAATG	0.478000													3	74					0	0	1	0	0
MIR1293	100302220	broad.mit.edu	37	12	50627995	50627995	+	Splice_Site	DEL	T	-	-	rs74548567		TCGA-CH-5790-01A-11D-1576-08	TCGA-CH-5790-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1730f32-f97d-49e7-beb7-593c8ca8a907	c66f09bd-db15-4633-aeba-4f579345c6d0	g.chr12:50627995delT	uc021qxu.1	-	1		c.1_splice	c.e1-1		LIMA1_uc001rwj.4_Intron|LIMA1_uc001rwk.4_Intron|LIMA1_uc010sms.2_Intron|LIMA1_uc010smr.2_Intron					Homo sapiens microRNA 1293 (MIR1293), microRNA.																		CAGAACAACCttttttttttt	0.478													4	2	---	---	---	---					
TSIX	9383	broad.mit.edu	37	X	73043145	73043145	+	RNA	DEL	T	-	-			TCGA-CH-5790-01A-11D-1576-08	TCGA-CH-5790-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1730f32-f97d-49e7-beb7-593c8ca8a907	c66f09bd-db15-4633-aeba-4f579345c6d0	g.chrX:73043145delT	uc004ebn.2	+	0		c.31106delT			XIST_uc004ebm.1_Non-coding_Transcript					Homo sapiens TSIX transcript, XIST antisense RNA (non-protein coding) (TSIX), antisense RNA.																		tttttctttcttttttttttt	0.348													4	4	---	---	---	---					
