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
YY2	404281	broad.mit.edu	37	X	21875031	21875031	+	Silent	SNP	A	A	G			TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chrX:21875031A>G	ENST00000429584.2	+	1	927	c.429A>G	c.(427-429)aaA>aaG	p.K143K	MBTPS2_ENST00000365779.2_Intron|MBTPS2_ENST00000379484.5_Intron|MBTPS2_ENST00000465888.1_3'UTR	NM_206923.3	NP_996806.2	O15391	TYY2_HUMAN	YY2 transcription factor	143					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|plasma membrane	DNA binding|zinc ion binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2)	19						agcccagcaaaaagcccagcG	0.602000													3	48					0	0	1	0	0
OLFM2	93145	broad.mit.edu	37	19	9968436	9968436	+	Silent	SNP	C	C	A			TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr19:9968436C>A	ENST00000264833.4	-	3	500	c.315G>T	c.(313-315)gcG>gcT	p.A105A	OLFM2_ENST00000590841.1_Silent_p.A27A	NM_058164.2	NP_477512.1	O95897	NOE2_HUMAN	olfactomedin 2	105						extracellular region				breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	31						CCCGGAGCCGCGCATCCAGGC	0.597000													10	28					6.44725e-10	6.62886e-10	1	1	0
DMD	1756	broad.mit.edu	37	X	31947768	31947768	+	Missense_Mutation	SNP	T	T	C			TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chrX:31947768T>C	ENST00000357033.4	-	47	7063	c.6857A>G	c.(6856-6858)gAa>gGa	p.E2286G	DMD_ENST00000378707.3_5'UTR|DMD_ENST00000343523.2_5'UTR|DMD_ENST00000474231.1_5'UTR|DMD_ENST00000378677.2_Missense_Mutation_p.E2282G|DMD_ENST00000541735.1_5'UTR|DMD_ENST00000359836.1_5'UTR	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2286					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				ATCTTGCTCTTCTGGGCTTAT	0.428000													52	86					0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32037587	32037587	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr6:32037587C>T	ENST00000375244.3	-	15	5531	c.5330G>A	c.(5329-5331)cGt>cAt	p.R1777H	TNXB_ENST00000375247.2_Missense_Mutation_p.R1777H			P22105	TENX_HUMAN	tenascin XB	1859	Fibronectin type-III 10.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	p.R1864H(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CTCCCCCAGACGGGGTTTTGG	0.582000													5	15					0	0	1	0	0
ZNF607	84775	broad.mit.edu	37	19	38190049	38190049	+	Missense_Mutation	SNP	T	T	G			TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr19:38190049T>G	ENST00000355202.4	-	5	1578	c.983A>C	c.(982-984)cAg>cCg	p.Q328P	ZNF607_ENST00000395835.3_Missense_Mutation_p.Q327P|CTD-2528L19.4_ENST00000586606.2_Intron	NM_032689.4	NP_116078.4	Q96SK3	ZN607_HUMAN	zinc finger protein 607	328					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			ATAAATTCTCTGATGCATGGT	0.398000													9	161					0	0	1	0	0
OTUD4	54726	broad.mit.edu	37	4	146059006	146059006	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr4:146059006G>A	ENST00000454497.2	-	21	2863	c.2726C>T	c.(2725-2727)aCt>aTt	p.T909I	OTUD4_ENST00000455611.2_Intron|OTUD4_ENST00000447906.2_Missense_Mutation_p.T974I	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN	OTU domain containing 4	973							protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					AACAGGCACAGTTTCTCTCTC	0.463000													4	223					0	0	1	0	0
ILVBL	10994	broad.mit.edu	37	19	15233798	15233798	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr19:15233798C>T	ENST00000263383.3	-	5	648	c.509G>A	c.(508-510)cGg>cAg	p.R170Q	ILVBL_ENST00000531635.1_5'UTR|ILVBL_ENST00000534378.1_Missense_Mutation_p.R63Q	NM_006844.3	NP_006835.2	A1L0T0	ILVBL_HUMAN	ilvB (bacterial acetolactate synthase)-like	170						integral to membrane	magnesium ion binding|thiamine pyrophosphate binding|transferase activity			NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)	26						ACAGAGTGGCCGGAAAAGGGA	0.632000													6	79					0	0	1	0	0
DHX36	170506	broad.mit.edu	37	3	154032922	154032922	+	Silent	SNP	T	T	C			TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr3:154032922T>C	ENST00000496811.1	-	3	596	c.516A>G	c.(514-516)caA>caG	p.Q172Q	DHX36_ENST00000329463.5_Silent_p.Q172Q|DHX36_ENST00000308361.6_Silent_p.Q172Q|DHX36_ENST00000544526.1_Silent_p.Q172Q	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	172						cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			GTTCATTTTCTTGCAAGAGAT	0.308000													28	46					0	0	1	0	0
OR1E2	8388	broad.mit.edu	37	17	3336736	3336736	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr17:3336736C>T	ENST00000248384.1	-	1	399	c.400G>A	c.(400-402)Gcc>Acc	p.A134T		NM_003554.1	NP_003545.1	P47887	OR1E2_HUMAN	olfactory receptor, family 1, subfamily E, member 2	134					sensory perception of smell	integral to plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(3)|lung(3)	9						AAGCAGATGGCGGTGTAGTGC	0.547000													4	39					0	0	1	0	0
EPHA5	2044	broad.mit.edu	37	4	66231755	66231755	+	Missense_Mutation	SNP	T	T	C			TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr4:66231755T>C	ENST00000273854.3	-	11	2545	c.1945A>G	c.(1945-1947)Act>Gct	p.T649A	EPHA5_ENST00000432638.2_Missense_Mutation_p.T486A|EPHA5_ENST00000354839.4_Missense_Mutation_p.T627A|EPHA5_ENST00000511294.1_Missense_Mutation_p.T650A	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	649					cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						TCAATGTAAGTTCTTACTCCT	0.353000										TSP Lung(17;0.13)			9	73					0	0	1	0	0
POTEC	388468	broad.mit.edu	37	18	14513764	14513764	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr18:14513764C>T	ENST00000358970.5	-	10	1429	c.1430G>A	c.(1429-1431)cGg>cAg	p.R477Q		NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	477								p.R477Q(12)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						AAGTTGTTTCCGGGTATCATT	0.358000													3	47					0	0	1	0	0
PPP2R1B	5519	broad.mit.edu	37	11	111613388	111613388	+	Splice_Site	SNP	G	G	A			TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr11:111613388G>A	ENST00000527614.1	-	13	1621	c.1554_splice	c.e13-1	p.A519_splice	PPP2R1B_ENST00000311129.5_Splice_Site_p.A519_splice|PPP2R1B_ENST00000427203.2_Splice_Site_p.A358_splice|PPP2R1B_ENST00000426998.2_Splice_Site_p.A455_splice|PPP2R1B_ENST00000341980.6_Splice_Site_p.A474_splice|PPP2R1B_ENST00000393055.2_Splice_Site_p.A392_splice	NM_001177562.1|NM_002716.4	NP_001171033.1|NP_002707.3	P30154	2AAB_HUMAN	protein phosphatase 2, regulatory subunit A, beta	519							protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|liver(1)|lung(10)|prostate(1)|urinary_tract(2)	22		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761)		CTCAGACAGTGCCTAGAAAAA	0.323000													13	31					0	0	1	0	0
OSBPL1A	114876	broad.mit.edu	37	18	21758022	21758022	+	Missense_Mutation	SNP	C	C	A			TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr18:21758022C>A	ENST00000319481.3	-	21	2254	c.2048G>T	c.(2047-2049)aGt>aTt	p.S683I	OSBPL1A_ENST00000399443.3_Missense_Mutation_p.S170I|OSBPL1A_ENST00000357041.4_Missense_Mutation_p.S301I	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A	683					cholesterol metabolic process|lipid transport|vesicle-mediated transport		phospholipid binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					TGCTTCTACACTCTTCCCCCA	0.438000													7	78					0.00448238	0.00454464	1	1	0
KIAA0101	9768	broad.mit.edu	37	15	64673229	64673229	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr15:64673229C>T	ENST00000300035.4	-	2	193	c.55G>A	c.(55-57)Gct>Act	p.A19T	KIAA0101_ENST00000560234.1_Silent_p.L19L|KIAA0101_ENST00000559519.1_Intron|KIAA0101_ENST00000380258.2_Missense_Mutation_p.A19T|KIAA0101_ENST00000558008.1_Missense_Mutation_p.A19T	NM_014736.4	NP_055551.1	Q15004	PAF_HUMAN	KIAA0101	19						mitochondrion|nucleus				central_nervous_system(1)|lung(1)|upper_aerodigestive_tract(1)	3						GGGGCTCGAGCAGCCACCACT	0.557000													3	30					0	0	1	0	0
SIGLEC5	8778	broad.mit.edu	37	19	52130861	52130861	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr19:52130861C>T	ENST00000222107.4	-	6	1274	c.1136G>A	c.(1135-1137)gGc>gAc	p.G379D	SIGLEC5_ENST00000429354.3_Missense_Mutation_p.G379D|SIGLEC5_ENST00000599649.1_Missense_Mutation_p.G379D|SIGLEC5_ENST00000570106.2_Missense_Mutation_p.G379D|SIGLEC5_ENST00000534261.2_Missense_Mutation_p.G379D			O15389	SIGL5_HUMAN	sialic acid binding Ig-like lectin 5	379					cell adhesion	integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		CTTGAATGAGCCCTGGCTGCT	0.662000													14	6					0	0	1	0	0
NLGN3	54413	broad.mit.edu	37	X	70386886	70386886	+	Silent	SNP	A	A	G			TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chrX:70386886A>G	ENST00000374051.3	+	6	1201	c.879A>G	c.(877-879)caA>caG	p.Q293Q	NLGN3_ENST00000358741.3_Silent_p.Q313Q|NLGN3_ENST00000476589.1_3'UTR|NLGN3_ENST00000536169.1_Silent_p.Q273Q	NM_018977.3	NP_061850.2	Q9NZ94	NLGN3_HUMAN	neuroligin 3	313					neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly	cell surface|endocytic vesicle|integral to plasma membrane|synapse	neurexin binding|receptor activity			biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37	Renal(35;0.156)					CCATCATCCAAAGTGGCTCTG	0.512000													6	11					0	0	1	0	0
LIG3	3980	broad.mit.edu	37	17	33319550	33319550	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr17:33319550G>A	ENST00000378526.4	+	8	1427	c.1294G>A	c.(1294-1296)Gcc>Acc	p.A432T	LIG3_ENST00000262327.5_Missense_Mutation_p.A432T	NM_013975.3	NP_039269.2	P49916	DNLI3_HUMAN	ligase III, DNA, ATP-dependent	432					base-excision repair|cell division|DNA ligation involved in DNA repair|DNA replication|reciprocal meiotic recombination|spermatogenesis	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|protein binding|zinc ion binding			endometrium(4)|large_intestine(8)|lung(9)|ovary(3)|pancreas(2)|prostate(1)|skin(3)|stomach(1)	31		Ovarian(249;0.17)			Bleomycin(DB00290)	CAGGTTAGACGCCCTTGACCC	0.542000								Other BER factors					41	58					0	0	1	0	0
RBMS1	5937	broad.mit.edu	37	2	161135075	161135075	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr2:161135075A>G	ENST00000348849.3	-	11	1476	c.1046T>C	c.(1045-1047)cTa>cCa	p.L349P	RBMS1_ENST00000409289.2_Missense_Mutation_p.L313P|RBMS1_ENST00000409075.1_Missense_Mutation_p.L313P|RBMS1_ENST00000392753.3_Missense_Mutation_p.L362P|RBMS1_ENST00000474820.1_5'UTR|RBMS1_ENST00000409972.1_Missense_Mutation_p.L313P	NM_002897.4|NM_016836.3	NP_002888.1|NP_058520.1	P29558	RBMS1_HUMAN	RNA binding motif, single stranded interacting protein 1	349					DNA replication|RNA processing	nucleus	double-stranded DNA binding|nucleotide binding|protein binding|RNA binding|single-stranded DNA binding		PLA2R1/RBMS1(2)								GGTGCTGCCTAGTGACAGATG	0.498000											OREG0015036	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	22					0	0	1	0	0
ARG2	384	broad.mit.edu	37	14	68112389	68112389	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr14:68112389C>T	ENST00000261783.3	+	4	572	c.392C>T	c.(391-393)gCc>gTc	p.A131V	ARG2_ENST00000556491.1_Intron	NM_001172.3	NP_001163.1	P78540	ARGI2_HUMAN	arginase 2	131					arginine metabolic process|nitric oxide biosynthetic process|urea cycle	mitochondrial matrix	arginase activity|metal ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|ovary(1)|prostate(1)	11				all cancers(60;0.000582)|OV - Ovarian serous cystadenocarcinoma(108;0.00392)|BRCA - Breast invasive adenocarcinoma(234;0.00928)	L-Arginine(DB00125)|L-Ornithine(DB00129)	AGTGGCCATGCCCGACACTGC	0.507000													3	39					0	0	1	0	0
GRIK2	2898	broad.mit.edu	37	6	102074501	102074501	+	Missense_Mutation	SNP	A	A	T			TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr6:102074501A>T	ENST00000369138.1	+	3	1020	c.530A>T	c.(529-531)gAt>gTt	p.D177V	GRIK2_ENST00000421544.1_Missense_Mutation_p.D177V|GRIK2_ENST00000413795.1_Missense_Mutation_p.D177V|GRIK2_ENST00000358361.3_Missense_Mutation_p.D177V|GRIK2_ENST00000369134.4_Missense_Mutation_p.D128V|GRIK2_ENST00000318991.6_Missense_Mutation_p.D177V|GRIK2_ENST00000369137.3_Missense_Mutation_p.D177V	NM_001166247.1	NP_001159719.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	177					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	GTTGTGTATGATGACAGCACT	0.398000													25	38					0	0	1	0	0
AHRR	57491	broad.mit.edu	37	5	353938	353938	+	Silent	SNP	G	G	A	rs150312721	by1000genomes	TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr5:353938G>A	ENST00000316418.5	+	3	212	c.168G>A	c.(166-168)ccG>ccA	p.P56P	AHRR_ENST00000505113.1_Silent_p.P56P|AHRR_ENST00000515206.1_Silent_p.P52P|AHRR_ENST00000512529.1_Intron	NM_020731.4	NP_065782.2	A9YTQ3	AHRR_HUMAN	aryl-hydrocarbon receptor repressor	56	Helix-loop-helix motif.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			GCCTGCTGCCGTTCCCGCCTG	0.627000													18	30					0	0	1	0	0
GPC4	2239	broad.mit.edu	37	X	132436968	132436968	+	Missense_Mutation	SNP	C	C	G	rs148166792		TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chrX:132436968C>G	ENST00000370828.3	-	9	2122	c.1598G>C	c.(1597-1599)cGt>cCt	p.R533P	GPC4_ENST00000535467.1_Missense_Mutation_p.R463P	NM_001448.2	NP_001439.2	O75487	GPC4_HUMAN	glypican 4	533					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)					TGCCCCAGGACGGACACCAGC	0.502000													102	121					0	0	1	0	0
TMTC2	160335	broad.mit.edu	37	12	83251282	83251282	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr12:83251282C>T	ENST00000549919.1	+	3	2364	c.559C>T	c.(559-561)Ctc>Ttc	p.L187F	TMTC2_ENST00000321196.3_Missense_Mutation_p.L193F|TMTC2_ENST00000548305.1_Missense_Mutation_p.L193F			Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2	193						endoplasmic reticulum|integral to membrane	binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						AGTGACTGTTCTCGCAGTTTC	0.458000													32	43					0	0	1	0	0
KCNJ5	3762	broad.mit.edu	37	11	128781260	128781260	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr11:128781260A>G	ENST00000529694.1	+	2	468	c.92A>G	c.(91-93)gAt>gGt	p.D31G	KCNJ5_ENST00000338350.4_Missense_Mutation_p.D31G|KCNJ5_ENST00000533599.1_Missense_Mutation_p.D31G	NM_000890.3	NP_000881.3	P48544	IRK5_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 5	31					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glibenclamide(DB01016)	CAGGCCCGCGATTATGTCCCC	0.577000													12	81					0	0	1	0	0
C2orf16	84226	broad.mit.edu	37	2	27799757	27799757	+	Silent	SNP	G	G	A			TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr2:27799757G>A	ENST00000408964.2	+	1	369	c.318G>A	c.(316-318)gaG>gaA	p.E106E		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	106										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					AATATGGGGAGCAAACTCCAA	0.413000													31	27					0	0	1	0	0
NRGN	4900	broad.mit.edu	37	11	124615509	124615509	+	Silent	SNP	G	G	A			TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr11:124615509G>A	ENST00000526916.2	+	2	266	c.126G>A	c.(124-126)gcG>gcA	p.A42A	NRGN_ENST00000284292.5_Silent_p.A42A|RP11-677M14.2_ENST00000531241.1_RNA|NRGN_ENST00000412681.1_Silent_p.A42A			Q92686	NEUG_HUMAN	neurogranin (protein kinase C substrate, RC3)	42	IQ.				nervous system development|signal transduction		calmodulin binding					all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)		GCCACATGGCGCGGAAGAAGA	0.726000													10	18					0	0	1	0	0
SLCO1B3	28234	broad.mit.edu	37	12	21033840	21033840	+	Silent	SNP	A	A	C			TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr12:21033840A>C	ENST00000381545.3	+	12	1602	c.1383A>C	c.(1381-1383)tcA>tcC	p.S461S	LST3_ENST00000540229.1_Silent_p.S461S|LST3_ENST00000381541.3_Intron|SLCO1B7_ENST00000554957.1_Intron|SLCO1B3_ENST00000553473.1_Silent_p.S461S|SLCO1B3_ENST00000261196.2_Silent_p.S461S	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	461	Kazal-like.				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					ATTGCAACTCAGAGTGCAATT	0.373000													13	130					0	0	1	0	0
TMEM185A	84548	broad.mit.edu	37	X	148690457	148690457	+	Silent	SNP	A	A	G			TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chrX:148690457A>G	ENST00000316916.8	-	3	584	c.280T>C	c.(280-282)Ttg>Ctg	p.L94L	TMEM185A_ENST00000507237.1_Silent_p.L94L|TMEM185A_ENST00000536359.1_Silent_p.L35L	NM_032508.2	NP_115897.1	Q8NFB2	T185A_HUMAN	transmembrane protein 185A	94						integral to membrane				kidney(1)|large_intestine(3)|lung(10)|ovary(1)	15	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					AACATCAACAAGAGCAAGTGG	0.468000													35	107					0	0	1	0	0
PTPRM	5797	broad.mit.edu	37	18	8244057	8244057	+	Splice_Site	SNP	A	A	G			TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr18:8244057A>G	ENST00000332175.8	+	15	3339	c.2300_splice	c.e15-1	p.K768_splice	PTPRM_ENST00000400053.4_Splice_Site_p.K706_splice|PTPRM_ENST00000444013.1_Splice_Site_p.K555_splice|PTPRM_ENST00000580170.1_Splice_Site_p.K768_splice|PTPRM_ENST00000400060.4_Splice_Site_p.K768_splice	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	768					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			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)				TATCCTAAGGAAACTGGCCAA	0.438000													21	34					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H			O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma								22	38					0	0	1	0	0
OR4M1	441670	broad.mit.edu	37	14	20248553	20248553	+	Silent	SNP	A	A	G			TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr14:20248553A>G	ENST00000315957.4	+	1	153	c.72A>G	c.(70-72)caA>caG	p.Q24Q		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	24					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GGGAGGTCCAACTAGTCCTAT	0.383000													25	200					0	0	1	0	0
MMP10	4319	broad.mit.edu	37	11	102651240	102651240	+	Missense_Mutation	SNP	T	T	C			TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr11:102651240T>C	ENST00000279441.4	-	1	119	c.83A>G	c.(82-84)gAc>gGc	p.D28G		NM_002425.2	NP_002416.1	P09238	MMP10_HUMAN	matrix metallopeptidase 10 (stromelysin 2)	28					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(2)|lung(6)	22	all_epithelial(12;0.00961)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0145)		CTTGTTGGAGTCCTCCTCTTT	0.488000													7	31					0	0	1	0	0
TSPYL6	388951	broad.mit.edu	37	2	54482297	54482297	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr2:54482297C>T	ENST00000317802.7	-	1	1112	c.992G>A	c.(991-993)cGc>cAc	p.R331H	ACYP2_ENST00000394666.3_Intron|ACYP2_ENST00000303536.4_Intron|ACYP2_ENST00000607452.1_Intron|ACYP2_ENST00000606865.1_Intron	NM_001003937.2	NP_001003937.2	Q8N831	TSYL6_HUMAN	TSPY-like 6	331					nucleosome assembly	nucleus				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(1)|ovary(1)|skin(1)|stomach(2)	20						ATGGCCCCGGCGCCACATGAT	0.493000													24	34					0	0	1	0	0
RGS3	5998	broad.mit.edu	37	9	116357880	116357880	+	Splice_Site	SNP	C	C	T			TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr9:116357880C>T	ENST00000374140.2	+	25	3455	c.3244_splice	c.e25-1	p.Y1082_splice	RGS3_ENST00000374134.3_Splice_Site_p.Y403_splice|RGS3_ENST00000462403.1_Splice_Site_p.Y195_splice|RGS3_ENST00000350696.5_Splice_Site_p.Y1082_splice|RGS3_ENST00000394646.3_Splice_Site_p.Y475_splice|RGS3_ENST00000343817.5_Splice_Site_p.Y801_splice|RGS3_ENST00000342620.5_Splice_Site_p.Y52_splice|RGS3_ENST00000462143.1_Splice_Site_p.Y403_splice	NM_144488.4	NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	1082	RGS.				inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						TCCTCACAGACGGGTTAGCAG	0.522000													3	69					0	0	1	0	0
KIAA0907	22889	broad.mit.edu	37	1	155899562	155899562	+	Missense_Mutation	SNP	T	T	C			TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr1:155899562T>C	ENST00000368320.3	-	3	350	c.325A>G	c.(325-327)Att>Gtt	p.I109V	KIAA0907_ENST00000368319.3_Missense_Mutation_p.I109V|KIAA0907_ENST00000482337.1_5'UTR|KIAA0907_ENST00000368321.3_Missense_Mutation_p.I109V			Q7Z7F0	K0907_HUMAN	KIAA0907	109										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)			ACATCATTAATTTCTACTTCA	0.458000													3	55					0	0	1	0	0
CHEK2	11200	broad.mit.edu	37	22	29091840	29091840	+	Missense_Mutation	SNP	T	T	C	rs142470496	byFrequency	TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr22:29091840T>C	ENST00000544772.1	-	12	1890	c.454A>G	c.(454-456)Aag>Gag	p.K152E	CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	373	FHA.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.K373E(9)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCCAAAATCTTGGAGTGCCCA	0.418000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					3	65					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577118	7577118	+	Missense_Mutation	SNP	C	C	A			TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr17:7577118C>A	ENST00000420246.2	-	8	952	c.820G>T	c.(820-822)Gtt>Ttt	p.V274F	TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.V274F|TP53_ENST00000445888.2_Missense_Mutation_p.V274F|TP53_ENST00000455263.2_Missense_Mutation_p.V274F|TP53_ENST00000359597.4_Missense_Mutation_p.V274F	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	274	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		V -> A (in sporadic cancers; somatic mutation).|V -> D (in sporadic cancers; somatic mutation).|V -> F (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> I (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.V274F(21)|p.V274L(11)|p.0?(8)|p.V274I(4)|p.?(2)|p.R273_C275delRVC(1)|p.V274fs*71(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.V274_P278del(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CAGGCACAAACACGCACCTCA	0.552000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			24	1					6.44725e-10	6.62886e-10	1	1	0
SOST	50964	broad.mit.edu	37	17	41835920	41835920	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr17:41835920G>A	ENST00000301691.2	-	1	236	c.190C>T	c.(190-192)Cgg>Tgg	p.R64W		NM_025237.2	NP_079513.1	Q9BQB4	SOST_HUMAN	sclerostin	64					negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of ossification|negative regulation of protein complex assembly|negative regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway		heparin binding|protein binding			large_intestine(2)|lung(3)|prostate(1)	6		Breast(137;0.00725)		UCEC - Uterine corpus endometrioid carcinoma (308;0.177)|BRCA - Breast invasive adenocarcinoma(366;0.0741)		TGGGGAGGCCGCCCTCCGTTC	0.562000													3	18					0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10426662	10426662	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr17:10426662C>T	ENST00000245503.5	-	38	5924	c.5540G>A	c.(5539-5541)cGc>cAc	p.R1847H	MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.R1847H|CTC-297N7.7_ENST00000399342.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1847					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CTCATGTTTGCGCAGACCTTT	0.463000													4	109					0	0	1	0	0
PRG4	10216	broad.mit.edu	37	1	186276229	186276229	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr1:186276229A>G	ENST00000445192.2	+	7	1423	c.1378A>G	c.(1378-1380)Aca>Gca	p.T460A	PRG4_ENST00000367483.4_Missense_Mutation_p.T419A|PRG4_ENST00000367485.4_Missense_Mutation_p.T367A|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367486.3_Missense_Mutation_p.T417A	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	460	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	p.T460A(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CAAGGAGCCTACACCCACCAC	0.657000													5	97					0	0	1	0	0
OLFM2	93145	broad.mit.edu	37	19	9968435	9968435	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr19:9968435G>A	ENST00000264833.4	-	3	501	c.316C>T	c.(316-318)Cgg>Tgg	p.R106W	OLFM2_ENST00000590841.1_Missense_Mutation_p.R28W	NM_058164.2	NP_477512.1	O95897	NOE2_HUMAN	olfactomedin 2	106			R -> Q (in dbSNP:rs2303100).			extracellular region				breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	31						GCCCGGAGCCGCGCATCCAGG	0.602000													13	28					0	0	1	0	0
HSD17B7P2	0	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													3	52					0	0	1	0	0
KIF5A	3798	broad.mit.edu	37	12	57976954	57976954	+	Missense_Mutation	SNP	G	G	T			TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr12:57976954G>T	ENST00000455537.2	+	28	3365	c.3091G>T	c.(3091-3093)Gcc>Tcc	p.A1031S	KIF5A_ENST00000286452.5_Missense_Mutation_p.A942S	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	1031	Globular.				blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						AGAGACAGCAGCCAGCTAATC	0.582000											OREG0021947	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	17					1	1	1	1	0
PCYOX1L	78991	broad.mit.edu	37	5	148747904	148747904	+	Missense_Mutation	SNP	C	C	G			TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr5:148747904C>G	ENST00000514349.1	+	5	1481	c.902C>G	c.(901-903)gCa>gGa	p.A301G	PCYOX1L_ENST00000274569.4_Missense_Mutation_p.A391G			Q8NBM8	PCYXL_HUMAN	prenylcysteine oxidase 1 like	391					prenylcysteine catabolic process	extracellular region	oxidoreductase activity, acting on a sulfur group of donors, oxygen as acceptor			breast(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCCAGGAGGCAGCTGTTTGG	0.567000											OREG0016912	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	49	79					0	0	1	0	0
SARM1	23098	broad.mit.edu	37	17	26712246	26712246	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr17:26712246G>A	ENST00000457710.3	+	5	1951	c.1480G>A	c.(1480-1482)Ggc>Agc	p.G494S	SARM1_ENST00000379061.4_3'UTR	NM_015077.2	NP_055892.2	Q6SZW1	SARM1_HUMAN	sterile alpha and TIR motif containing 1	528	SAM 2.				innate immune response	cytoplasm|intrinsic to membrane	binding|transmembrane receptor activity			cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	12	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		GGAAGACTGCGGCATCCACCT	0.741000													6	4					0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64548243	64548243	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr14:64548243A>G	ENST00000357395.3	+	57	11659	c.515A>G	c.(514-516)aAt>aGt	p.N172S	SYNE2_ENST00000344113.4_Missense_Mutation_p.N3810S|SYNE2_ENST00000358025.3_Missense_Mutation_p.N3810S|SYNE2_ENST00000555002.1_Missense_Mutation_p.N444S|SYNE2_ENST00000554584.1_Missense_Mutation_p.N3843S|SYNE2_ENST00000394768.2_Missense_Mutation_p.N172S			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	3810	Actin-binding.				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TTGCTGGCCAATCCTGCTGAC	0.463000													28	35					0	0	1	0	0
CYP4A22	284541	broad.mit.edu	37	1	47603305	47603305	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr1:47603305C>T	ENST00000371891.3	+	1	179	c.148C>T	c.(148-150)Cag>Tag	p.Q50*	CYP4A22_ENST00000485117.1_3'UTR|CYP4A22-AS1_ENST00000444042.2_lincRNA|CYP4A22_ENST00000371890.3_Nonsense_Mutation_p.Q50*|CYP4A22_ENST00000294337.3_Nonsense_Mutation_p.Q50*	NM_001010969.2	NP_001010969.2	Q5TCH4	CP4AM_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 22	50						endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						AGCCCTCCAGCAGTTCCCGTG	0.617000													9	48					0	0	1	0	0
PGK1	5230	broad.mit.edu	37	X	77369613	77369613	+	Missense_Mutation	SNP	C	C	A			TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chrX:77369613C>A	ENST00000373316.4	+	4	540	c.373C>A	c.(373-375)Cat>Aat	p.H125N	PGK1_ENST00000442431.1_Intron|PGK1_ENST00000537456.1_Missense_Mutation_p.H97N	NM_000291.3	NP_000282.1	P00558	PGK1_HUMAN	phosphoglycerate kinase 1	125					gluconeogenesis|glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	24						CCTCCGCTTTCATGTGGAGGA	0.517000													38	180					1.04594e-18	1.10657e-18	1	1	0
TLL1	7092	broad.mit.edu	37	4	166935596	166935596	+	Missense_Mutation	SNP	T	T	C			TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr4:166935596T>C	ENST00000061240.2	+	8	1573	c.926T>C	c.(925-927)tTt>tCt	p.F309S	TLL1_ENST00000513213.1_Missense_Mutation_p.F309S|TLL1_ENST00000507499.1_Missense_Mutation_p.F309S	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	309	Metalloprotease (By similarity).				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)		AGGGGGATGTTTCTGGATACC	0.418000													41	214					0	0	1	0	0
DYNC2LI1	51626	broad.mit.edu	37	2	44031782	44031782	+	Splice_Site	SNP	A	A	T			TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr2:44031782A>T	ENST00000260605.8	+	11	904	c.802_splice	c.e11-1	p.G268_splice	DYNC2LI1_ENST00000443170.3_Splice_Site_p.G142_splice|DYNC2LI1_ENST00000605786.1_Splice_Site_p.G269_splice	NM_001193464.1|NM_016008.3	NP_001180393.1|NP_057092.2	Q8TCX1	DC2L1_HUMAN	dynein, cytoplasmic 2, light intermediate chain 1	268						apical part of cell|axonemal dynein complex|cilium axoneme|cytoplasm|microtubule|motile primary cilium	motor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|skin(1)	26		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CTATTTTAGGATCTCCTCCTG	0.368000													6	48					0	0	1	0	0
CHEK2	11200	broad.mit.edu	37	22	29091841	29091841	+	Silent	SNP	G	G	A	rs146546850	byFrequency	TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr22:29091841G>A	ENST00000544772.1	-	12	1889	c.453C>T	c.(451-453)tcC>tcT	p.S151S	CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000402731.1_Silent_p.S343S	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	372	FHA.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.S372S(8)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCAAAATCTTGGAGTGCCCAA	0.413000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					3	65					0	0	1	0	0
SFTPB	6439	broad.mit.edu	37	2	85892817	85892817	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr2:85892817C>T	ENST00000342375.3	-	6	629	c.494G>A	c.(493-495)cGg>cAg	p.R165Q	SFTPB_ENST00000519937.2_Missense_Mutation_p.R165Q|SFTPB_ENST00000409383.1_Missense_Mutation_p.R177Q|SFTPB_ENST00000393822.3_Missense_Mutation_p.R177Q	NM_000542.3|NM_198843.2	NP_000533.3|NP_942140.2	P07988	PSPB_HUMAN	surfactant protein B	165					organ morphogenesis|respiratory gaseous exchange|sphingolipid metabolic process	extracellular space|lysosome		p.R165Q(1)		central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)	16						CAGAGGGTCCCGCAGAGGTTT	0.667000													8	39					0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100364680	100364680	+	RNA	SNP	G	G	A			TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr7:100364680G>A	ENST00000542585.1	+	0	4808				ZAN_ENST00000546213.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546292.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CCTGACCTTCGATGGCGCCTT	0.597000													4	81					0	0	1	0	0
GDE1	51573	broad.mit.edu	37	16	19516377	19516377	+	Missense_Mutation	SNP	G	G	C			TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr16:19516377G>C	ENST00000353258.3	-	5	854	c.674C>G	c.(673-675)aCt>aGt	p.T225S		NM_016641.3	NP_057725.1	Q9NZC3	GDE1_HUMAN	glycerophosphodiester phosphodiesterase 1	225	GDPD.				glycerol metabolic process|lipid metabolic process	cytoplasm|integral to membrane	glycerophosphodiester phosphodiesterase activity|glycerophosphoinositol glycerophosphodiesterase activity|metal ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)	13						AGGTCTGTGAGTTAATGCTGT	0.353000													29	158					0	0	1	0	0
APOBEC1	339	broad.mit.edu	37	12	7803711	7803711	+	Missense_Mutation	SNP	C	C	G			TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr12:7803711C>G	ENST00000229304.4	-	4	489	c.469G>C	c.(469-471)Gtc>Ctc	p.V157L		NM_001644.3	NP_001635.2	P41238	ABEC1_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1	157					cytidine to uridine editing|DNA demethylation|lipid metabolic process|mRNA modification|mRNA processing|negative regulation of methylation-dependent chromatin silencing	nucleoplasm	cytidine deaminase activity|RNA binding|zinc ion binding			kidney(2)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						GGGTAGTTGACAAAATTCCTC	0.438000													3	76					0	0	1	0	0
RP11-798G7.5	0	broad.mit.edu	37	17	43587569	43587569	+	RNA	SNP	G	G	C	rs149697015	by1000genomes	TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr17:43587569G>C	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							aactccgtctgaaaagaaaag	0.443000													5	64					0	0	1	0	0
AGAP4	119016	broad.mit.edu	37	10	46342668	46342688	+	In_Frame_Del	DEL	GCTCCTGCCATCCTGTCCCCA	GCTCCTGCCATCCTGTCCCCA	-			TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr10:46342668_46342688delGCTCCTGCCATCCTGTCCCCA	ENST00000448048.2	-	1	233_253	c.108_128delTGGGGACAGGATGGCAGGAGC	c.(106-129)gcg>gc	p.AGDRMAGA36del	AGAP4_ENST00000430779.2_5'UTR	NM_133446.2	NP_597703.2	Q96P64	AGAP4_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 4	36					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	p.G37_A43delGDRMAGA(1)		central_nervous_system(1)|lung(1)|ovary(1)	3						AGCCATGGGCGCTCCTGCCATCCTGTCCCCAGCTCCTGCCT	0.588													5	8	---	---	---	---					
MIS18BP1	55320	broad.mit.edu	37	14	45693722	45693722	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr14:45693722delT	ENST00000310806.4	-	11	2526	c.2068delA	c.(2068-2070)gtfs	p.S690fs		NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN	MIS18 binding protein 1	690					cell division|CenH3-containing nucleosome assembly at centromere|mitosis	chromosome, centromeric region|nucleoplasm	DNA binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						CTGATGGGACTTTTTTTTTGA	0.373													8	173	---	---	---	---					
LAMA3	3909	broad.mit.edu	37	18	21494681	21494682	+	Frame_Shift_Ins	INS	-	-	TTAA			TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr18:21494681_21494682insTTAA	ENST00000313654.9	+	58	7742_7743	c.7501_7502insTTAA	c.(7501-7503)taafs	p.*2501fs	LAMA3_ENST00000399516.3_Frame_Shift_Ins_p.*2445fs|LAMA3_ENST00000269217.6_Frame_Shift_Ins_p.*892fs|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000587184.1_Frame_Shift_Ins_p.*836fs	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	2501	Laminin G-like 1.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GTTTGCAAGGCTTAATTACACC	0.347													15	36	---	---	---	---