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
DKK2	27123	broad.mit.edu	37	4	107956655	107956655	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr4:107956655G>A	ENST00000285311.3	-	1	799	c.94C>T	c.(94-96)Cgg>Tgg	p.R32W	DKK2_ENST00000513208.1_Intron|DKK2_ENST00000510463.1_Intron	NM_014421.2	NP_055236.1	Q9UBU2	DKK2_HUMAN	dickkopf WNT signaling pathway inhibitor 2	32					multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular space				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		AGTTTGGCCCGCGAACTGCCG	0.637000													4	169					0	0	1	0	0
CTNNBIP1	56998	broad.mit.edu	37	1	9931303	9931303	+	Silent	SNP	G	G	A			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr1:9931303G>A	ENST00000377263.1	-	5	440	c.129C>T	c.(127-129)acC>acT	p.T43T	CTNNBIP1_ENST00000400904.3_Silent_p.T43T|CTNNBIP1_ENST00000537447.1_Silent_p.T43T|CTNNBIP1_ENST00000377258.1_Silent_p.T43T|CTNNBIP1_ENST00000377256.1_Silent_p.T43T	NM_001012329.1|NM_020248.2	NP_001012329.1|NP_064633.1	Q9NSA3	CNBP1_HUMAN	catenin, beta interacting protein 1	43					anterior/posterior pattern formation|branching involved in ureteric bud morphogenesis|negative regulation of mesenchymal cell proliferation|negative regulation of protein binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of smooth muscle cell proliferation|negative regulation of transcription initiation from RNA polymerase II promoter|negative regulation of Wnt receptor signaling pathway|positive regulation of monocyte differentiation|positive regulation of osteoblast differentiation|regulation of vascular permeability involved in acute inflammatory response|Wnt receptor signaling pathway	Axin-APC-beta-catenin-GSK3B complex|cytosol|nucleus	armadillo repeat domain binding|beta-catenin binding			cervix(1)|large_intestine(1)|lung(1)	3		all_lung(284;1.82e-05)|Lung NSC(185;3.08e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|Colorectal(212;7.32e-08)|COAD - Colon adenocarcinoma(227;1.73e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000912)|KIRC - Kidney renal clear cell carcinoma(229;0.00112)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		CCCCTGCATAGGTGCGCAGGA	0.647000													2	8					0	0	1	0	0
THAP11	57215	broad.mit.edu	37	16	67876808	67876808	+	Silent	SNP	G	G	A			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr16:67876808G>A	ENST00000303596.1	+	1	596	c.351G>A	c.(349-351)caG>caA	p.Q117Q	CENPT_ENST00000562787.1_Intron	NM_020457.2	NP_065190.2	Q96EK4	THA11_HUMAN	THAP domain containing 11	117	Gln-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|identical protein binding|metal ion binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1)	8		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118)		agcagcaacagcagcagcagc	0.667000													5	94					0	0	1	0	0
NUTM1	256646	broad.mit.edu	37	15	34648411	34648411	+	Silent	SNP	C	C	A			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr15:34648411C>A	ENST00000537011.1	+	8	2584	c.2202C>A	c.(2200-2202)tcC>tcA	p.S734S	NUTM1_ENST00000333756.4_Silent_p.S706S|NUTM1_ENST00000438749.3_Silent_p.S724S					NUT midline carcinoma, family member 1																		AGAATCCTTCCCCTAGAGCAG	0.557000													12	40					2.80697e-09	3.17771e-09	1	1	0
PAMR1	25891	broad.mit.edu	37	11	35515710	35515710	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr11:35515710C>T	ENST00000378880.2	-	2	629	c.184G>A	c.(184-186)Gtg>Atg	p.V62M	PAMR1_ENST00000278360.3_Missense_Mutation_p.V62M|PAMR1_ENST00000534803.1_5'UTR|PAMR1_ENST00000378878.3_Missense_Mutation_p.V62M|PAMR1_ENST00000532848.1_Missense_Mutation_p.V22M	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	62	Cys-rich.				proteolysis	extracellular region	serine-type endopeptidase activity	p.V62M(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						GTATAACCCACGACTTCCCTC	0.522000													3	125					0	0	1	0	0
EPB41L3	23136	broad.mit.edu	37	18	5395133	5395133	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr18:5395133C>T	ENST00000341928.2	-	21	3426	c.3086G>A	c.(3085-3087)gGc>gAc	p.G1029D	EPB41L3_ENST00000427684.2_Missense_Mutation_p.G326D|EPB41L3_ENST00000400111.3_Missense_Mutation_p.G807D|EPB41L3_ENST00000342933.3_Missense_Mutation_p.G1029D|EPB41L3_ENST00000540638.2_Missense_Mutation_p.G807D|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000542146.1_Missense_Mutation_p.G334D|EPB41L3_ENST00000544123.1_Missense_Mutation_p.G860D	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	1029	Carboxyl-terminal (CTD).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						CTCTGAAATGCCCCCTTTCAC	0.478000													3	91					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92088411	92088411	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr11:92088411G>A	ENST00000298047.6	+	1	3150	c.3133G>A	c.(3133-3135)Gac>Aac	p.D1045N	FAT3_ENST00000409404.2_Missense_Mutation_p.D1045N|FAT3_ENST00000541502.1_Missense_Mutation_p.D1045N|FAT3_ENST00000525166.1_Missense_Mutation_p.D895N			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1045	Cadherin 10.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CTATTTCCCAGACTTTGCTGT	0.498000										TCGA Ovarian(4;0.039)			4	53					0	0	1	0	0
POM121	9883	broad.mit.edu	37	7	72409217	72409217	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr7:72409217T>G	ENST00000395270.1	+	9	1610	c.569T>G	c.(568-570)aTa>aGa	p.I190R	POM121_ENST00000358357.3_Missense_Mutation_p.I190R|POM121_ENST00000446813.1_Missense_Mutation_p.I190R|POM121_ENST00000257622.4_Missense_Mutation_p.I190R|POM121_ENST00000434423.2_Missense_Mutation_p.I455R	NM_001257190.1	NP_001244119.1	Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	455	Pore side (Potential).|Pro-rich.|Required for targeting to the nucleus and nuclear pore complex.				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				GCAAAGAAAATAAGGTACTTG	0.537000													14	111					0	0	1	0	0
NUDT16L1	84309	broad.mit.edu	37	16	4744195	4744195	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr16:4744195G>T	ENST00000405142.1	+	2	379	c.370G>T	c.(370-372)Gcc>Tcc	p.A124S	NUDT16L1_ENST00000586536.1_Missense_Mutation_p.A124S|NUDT16L1_ENST00000304301.6_Missense_Mutation_p.A124S|NUDT16L1_ENST00000586252.1_Missense_Mutation_p.A124S			Q9BRJ7	SDOS_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 16-like 1	124	Interaction with PXN (By similarity).					cytoplasm	hydrolase activity			endometrium(1)|large_intestine(1)|lung(1)|skin(1)	4						GCAGCTGCACGCCGTGGAGAT	0.761000													4	3					0.00909568	0.00940932	1	1	0
DCAF4L2	138009	broad.mit.edu	37	8	88885088	88885088	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr8:88885088C>T	ENST00000319675.3	-	1	1208	c.1112G>A	c.(1111-1113)cGc>cAc	p.R371H		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	371								p.R371H(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						GCCCCCGAGGCGAGAAGAGAA	0.592000													17	39					0	0	1	0	0
TRERF1	55809	broad.mit.edu	37	6	42231118	42231118	+	Silent	SNP	G	G	A			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr6:42231118G>A	ENST00000541110.1	-	8	2392	c.1824C>T	c.(1822-1824)gcC>gcT	p.A608A	TRERF1_ENST00000372917.4_Intron|TRERF1_ENST00000340840.2_Intron|TRERF1_ENST00000372922.4_Silent_p.A608A|TRERF1_ENST00000354325.2_Intron			Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	608	Interacts with CREBBP.|Pro-rich.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CGGAGGGGGCGGCAACGGTGC	0.637000													3	140					0	0	1	0	0
COL6A6	131873	broad.mit.edu	37	3	130285695	130285695	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr3:130285695G>A	ENST00000358511.6	+	4	1463	c.1432G>A	c.(1432-1434)Gtt>Att	p.V478I	COL6A6_ENST00000453409.2_Missense_Mutation_p.V478I	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	478	Nonhelical region.|VWFA 3.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						GGTTGGGGCCGTTCAGTATGC	0.498000													3	158					0	0	1	0	0
COL9A1	1297	broad.mit.edu	37	6	70990553	70990553	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr6:70990553G>T	ENST00000357250.6	-	10	1095	c.937C>A	c.(937-939)Cca>Aca	p.P313T	COL9A1_ENST00000370499.4_Missense_Mutation_p.P70T|COL9A1_ENST00000370496.3_Missense_Mutation_p.P313T|COL9A1_ENST00000320755.7_Missense_Mutation_p.P70T	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	313	Triple-helical region (COL3).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding	p.P313T(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						GGAGCTCCTGGCTTTCCCGGT	0.627000													4	8					0.150653	0.153207	1	1	0
FAM211B	388886	broad.mit.edu	37	22	24982300	24982300	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr22:24982300C>A	ENST00000318753.8	-	4	525	c.502G>T	c.(502-504)Gtg>Ttg	p.V168L	GGT1_ENST00000248923.4_Intron	NM_207644.2	NP_997527.2	Q2VPJ9	LRC6X_HUMAN	family with sequence similarity 211, member B	168																	ATGTGTTGCACGTCCTGTGTC	0.617000													7	355					0.000274275	0.000293866	1	1	0
DPP6	1804	broad.mit.edu	37	7	154677383	154677383	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr7:154677383A>G	ENST00000404039.1	+	22	2569	c.1982A>G	c.(1981-1983)aAg>aGg	p.K661R	DPP6_ENST00000332007.3_Missense_Mutation_p.K663R|DPP6_ENST00000427557.1_Missense_Mutation_p.K618R|DPP6_ENST00000377770.3_Missense_Mutation_p.K725R	NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	725					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			CTCCCAGCAAAGGGAGAAAAT	0.517000													2	8					0	0	1	0	0
WNT6	7475	broad.mit.edu	37	2	219735816	219735816	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr2:219735816C>T	ENST00000233948.3	+	2	365	c.148C>T	c.(148-150)Cgg>Tgg	p.R50W	WNT6_ENST00000486233.1_Intron	NM_006522.3	NP_006513.1	Q9Y6F9	WNT6_HUMAN	wingless-type MMTV integration site family, member 6	50					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|cornea development in camera-type eye|neuron differentiation|odontogenesis of dentine-containing tooth|positive regulation of gene expression|positive regulation of tooth mineralization|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			large_intestine(1)|ovary(2)|skin(1)	4		Renal(207;0.0474)		Epithelial(149;4.53e-07)|all cancers(144;9.3e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCTGGCCGGGCGGCAGGCCGA	0.667000													6	123					0	0	1	0	0
DPP7	29952	broad.mit.edu	37	9	140007905	140007905	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr9:140007905G>A	ENST00000371579.2	-	5	533	c.529C>T	c.(529-531)Cac>Tac	p.H177Y		NM_013379.2	NP_037511.2	Q9UHL4	DPP2_HUMAN	dipeptidyl-peptidase 7	177						cytoplasmic membrane-bounded vesicle|extracellular region|lysosome	aminopeptidase activity|protein binding|serine-type peptidase activity			endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;4.25e-05)|Epithelial(140;0.000633)		GCCACCAGGTGGGGATACTTC	0.642000													3	37					0	0	1	0	0
ZBTB6	10773	broad.mit.edu	37	9	125673324	125673324	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr9:125673324C>T	ENST00000373659.3	-	2	1116	c.1028G>A	c.(1027-1029)cGa>cAa	p.R343Q		NM_006626.5	NP_006617.1	Q15916	ZBTB6_HUMAN	zinc finger and BTB domain containing 6	343					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	11						TCGGATGTGTCGGTTGAGATT	0.413000													12	67					0	0	1	0	0
NPHP4	261734	broad.mit.edu	37	1	5934619	5934619	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr1:5934619G>A	ENST00000378156.4	-	22	3408	c.3143C>T	c.(3142-3144)gCc>gTc	p.A1048V	NPHP4_ENST00000478423.2_5'UTR	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	1048					actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		GAGCTGGGGGGCCAGGCTGCC	0.652000													4	19					0	0	1	0	0
SERBP1	26135	broad.mit.edu	37	1	67895763	67895763	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr1:67895763G>A	ENST00000370994.4	-	1	335	c.221C>T	c.(220-222)tCc>tTc	p.S74F	SERBP1_ENST00000361219.6_Missense_Mutation_p.S74F|SERBP1_ENST00000370995.2_Missense_Mutation_p.S74F|SERBP1_ENST00000370990.5_Missense_Mutation_p.S74F	NM_001018067.1|NM_001018068.1|NM_001018069.1|NM_015640.3	NP_001018077.1|NP_001018078.1|NP_001018079.1|NP_056455.3	Q8NC51	PAIRB_HUMAN	SERPINE1 mRNA binding protein 1	74					regulation of mRNA stability	nucleus|perinuclear region of cytoplasm	mRNA 3'-UTR binding|protein binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(2)	13						GTCTTTCTGGGACTCCTTGCG	0.667000													14	86					0	0	1	0	0
D86994.2	0	broad.mit.edu	37	22	23006961	23006961	+	RNA	SNP	C	C	T			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr22:23006961C>T	ENST00000385099.1	+	0	64																											GGCTCTGCTCCTCCTCACCCT	0.627000													3	3					0	0	1	0	0
SPATA31D1	389763	broad.mit.edu	37	9	84607230	84607230	+	Silent	SNP	T	T	C			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr9:84607230T>C	ENST00000344803.2	+	4	1892	c.1845T>C	c.(1843-1845)tcT>tcC	p.S615S		NM_001001670.2	NP_001001670.1			SPATA31 subfamily D, member 1																		AGGCACGGTCTCTTTTGCCAT	0.478000													4	81					0	0	1	0	0
DHX57	90957	broad.mit.edu	37	2	39053767	39053767	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr2:39053767G>C	ENST00000295373.6	-	15	2830	c.2704C>G	c.(2704-2706)Cct>Gct	p.P902A		NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	902	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				CCTGCAGGAGGTTTTACAAAC	0.383000													3	55					0	0	1	0	0
EPB41L3	23136	broad.mit.edu	37	18	5419867	5419867	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr18:5419867G>A	ENST00000341928.2	-	12	1689	c.1349C>T	c.(1348-1350)aCt>aTt	p.T450I	EPB41L3_ENST00000400111.3_Missense_Mutation_p.T468I|EPB41L3_ENST00000342933.3_Missense_Mutation_p.T450I|EPB41L3_ENST00000540638.2_Missense_Mutation_p.T468I|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000544123.1_Missense_Mutation_p.T468I	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	450	Hydrophilic.				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						GTACTGGCCAGTACCAACCTC	0.438000													3	117					0	0	1	0	0
LL22NC03-80A10.6	0	broad.mit.edu	37	22	22661272	22661272	+	RNA	SNP	C	C	T			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr22:22661272C>T	ENST00000426066.1	+	0	360					NR_027293.1																						CTGGGATGTACGTCTGCGTTG	0.488000													3	90					0	0	1	0	0
HPN	3249	broad.mit.edu	37	19	35556886	35556886	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr19:35556886G>A	ENST00000262626.2	+	12	1990	c.1165G>A	c.(1165-1167)Gtc>Atc	p.V389I	HPN_ENST00000597419.1_Missense_Mutation_p.V231I|HPN_ENST00000392226.1_Missense_Mutation_p.V389I|HPN-AS1_ENST00000392227.2_RNA	NM_182983.2	NP_892028.1	P05981	HEPS_HUMAN	hepsin	389	Peptidase S1.				cell growth|proteolysis	cytoplasm|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	19	all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)		Coagulation factor VIIa(DB00036)	GAAGCCAGGCGTCTACACCAA	0.587000													4	169					0	0	1	0	0
ATP8B2	57198	broad.mit.edu	37	1	154309883	154309883	+	Silent	SNP	G	G	A			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr1:154309883G>A	ENST00000368489.3	+	12	996	c.996G>A	c.(994-996)gaG>gaA	p.E332E	ATP8B2_ENST00000368487.3_Silent_p.E299E|ATP8B2_ENST00000426445.1_3'UTR|ATP8B2_ENST00000341822.2_Silent_p.E318E	NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	318					ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CCATCTGGGAGCACGAGGTGG	0.557000													4	195					0	0	1	0	0
GGT3P	0	broad.mit.edu	37	22	18778612	18778612	+	RNA	SNP	C	C	T	rs1055042	by1000genomes	TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr22:18778612C>T	ENST00000412448.1	-	0	793																											GCGGCCACGGCAGCCCTGGTG	0.637000													3	14					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126242060	126242060	+	Silent	SNP	C	C	G			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr4:126242060C>G	ENST00000394329.3	+	1	4507	c.4494C>G	c.(4492-4494)gcC>gcG	p.A1498A		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1498	Cadherin 14.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CTGTAAAAGCCAATGATCAAG	0.383000													22	99					0	0	1	0	0
TMX2	51075	broad.mit.edu	37	11	57506220	57506220	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr11:57506220A>G	ENST00000278422.4	+	5	538	c.526A>G	c.(526-528)Atc>Gtc	p.I176V	TMX2-CTNND1_ENST00000528395.1_Intron|TMX2_ENST00000378312.4_Missense_Mutation_p.I138V	NM_015959.3	NP_057043.1	Q9Y320	TMX2_HUMAN	thioredoxin-related transmembrane protein 2	176	Thioredoxin.				cell redox homeostasis	integral to membrane				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(2)	12						ATTTGCCCCTATCTATGCTGA	0.473000													32	155					0	0	1	0	0
PLCL1	5334	broad.mit.edu	37	2	198950517	198950517	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr2:198950517C>T	ENST00000428675.1	+	2	2674	c.2276C>T	c.(2275-2277)gCg>gTg	p.A759V	PLCL1_ENST00000437704.2_Missense_Mutation_p.A661V	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	759	C2.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	GGAATTCCAGCGGATTGTTCG	0.418000													10	52					0	0	1	0	0
PPM1K	152926	broad.mit.edu	37	4	89183862	89183862	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr4:89183862G>A	ENST00000295908.6	-	7	1393	c.1004C>T	c.(1003-1005)aCt>aTt	p.T335I		NM_152542.3	NP_689755.3	Q8N3J5	PPM1K_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1K	335	PP2C-like.				protein dephosphorylation	mitochondrial matrix|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	13		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000192)		GTTATCCTCAGTACCGTACTG	0.423000													10	39					0	0	1	0	0
FOXP1	27086	broad.mit.edu	37	3	71096126	71096126	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr3:71096126G>A	ENST00000318789.4	-	10	1156	c.631C>T	c.(631-633)Cag>Tag	p.Q211*	FOXP1_ENST00000498215.1_Nonsense_Mutation_p.Q211*|FOXP1_ENST00000484350.1_Nonsense_Mutation_p.Q135*|FOXP1_ENST00000472382.1_5'UTR|FOXP1_ENST00000475937.1_Nonsense_Mutation_p.Q211*|FOXP1_ENST00000493089.1_Nonsense_Mutation_p.Q211*|FOXP1_ENST00000491238.1_Nonsense_Mutation_p.Q213*|FOXP1_ENST00000468577.1_Nonsense_Mutation_p.Q211*	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN	forkhead box P1	211	Gln-rich.			GQP -> ARA (in Ref. 1; AAK69408).	cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		AGGGCAGGCTGCCCGGGCTGA	0.532000			T	PAX5	ALL								24	262					0	0	1	0	0
ZNF610	162963	broad.mit.edu	37	19	52868989	52868989	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr19:52868989C>A	ENST00000601151.1	+	5	681	c.229C>A	c.(229-231)Cct>Act	p.P77T	ZNF610_ENST00000327920.8_Missense_Mutation_p.P120T|ZNF610_ENST00000321287.8_Missense_Mutation_p.P120T|ZNF610_ENST00000403906.3_Missense_Mutation_p.P120T	NM_001161427.1	NP_001154899.1	Q8N9Z0	ZN610_HUMAN	zinc finger protein 610	120	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2)	34				OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)		AGAAAACAAGCCTATTAAAAA	0.403000													5	148					3.59834e-05	3.92546e-05	1	1	0
PRKD3	23683	broad.mit.edu	37	2	37516516	37516516	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr2:37516516C>A	ENST00000379066.1	-	5	1462	c.700G>T	c.(700-702)Gcc>Tcc	p.A234S	PRKD3_ENST00000234179.2_Missense_Mutation_p.A234S			O94806	KPCD3_HUMAN	protein kinase D3	234					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein binding|protein kinase C activity			breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.21)				CTGGGAAGGGCTACATATTCA	0.418000													3	68					1	1	1	1	0
ABCA4	24	broad.mit.edu	37	1	94526101	94526101	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr1:94526101A>G	ENST00000370225.3	-	14	2238	c.2152T>C	c.(2152-2154)Ttc>Ctc	p.F718L	ABCA4_ENST00000535735.1_Missense_Mutation_p.F718L	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	718					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		ACCATGATGAATATCGTCAGG	0.468000													9	54					0	0	1	0	0
D86994.2	0	broad.mit.edu	37	22	23006960	23006960	+	RNA	SNP	C	C	A			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr22:23006960C>A	ENST00000385099.1	+	0	63																											GGGCTCTGCTCCTCCTCACCC	0.627000													3	3					0.004672	0.00491789	1	1	0
FOXP1	27086	broad.mit.edu	37	3	71096127	71096127	+	Silent	SNP	C	C	A			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr3:71096127C>A	ENST00000318789.4	-	10	1155	c.630G>T	c.(628-630)ggG>ggT	p.G210G	FOXP1_ENST00000498215.1_Silent_p.G210G|FOXP1_ENST00000484350.1_Silent_p.G134G|FOXP1_ENST00000472382.1_5'UTR|FOXP1_ENST00000475937.1_Silent_p.G210G|FOXP1_ENST00000493089.1_Silent_p.G210G|FOXP1_ENST00000491238.1_Silent_p.G212G|FOXP1_ENST00000468577.1_Silent_p.G210G	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN	forkhead box P1	210	Gln-rich.			GQP -> ARA (in Ref. 1; AAK69408).	cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		GGGCAGGCTGCCCGGGCTGAA	0.532000			T	PAX5	ALL								25	258					2.48779e-11	2.92682e-11	1	1	0
ATOH1	474	broad.mit.edu	37	4	94750937	94750937	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr4:94750937T>A	ENST00000306011.3	+	1	896	c.860T>A	c.(859-861)gTg>gAg	p.V287E		NM_005172.1	NP_005163.1	Q92858	ATOH1_HUMAN	atonal homolog 1 (Drosophila)	287					transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.57e-07)		GGGTACTCGGTGCAGCTGGAC	0.647000													7	89					0	0	1	0	0
ZNF205	7755	broad.mit.edu	37	16	3168943	3168943	+	Silent	SNP	G	G	A			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr16:3168943G>A	ENST00000382192.3	+	6	727	c.522G>A	c.(520-522)gcG>gcA	p.A174A	RP11-473M20.14_ENST00000575139.1_RNA|ZNF205_ENST00000219091.4_Silent_p.A174A|RP11-473M20.14_ENST00000576490.1_RNA	NM_001278158.1|NM_003456.2	NP_001265087.1|NP_003447.2	O95201	ZN205_HUMAN	zinc finger protein 205	174	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20						CCCCTCAAGCGCACGGCAAGG	0.652000													3	144					0	0	1	0	0
EVC	2121	broad.mit.edu	37	4	5735120	5735120	+	Silent	SNP	C	C	T			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr4:5735120C>T	ENST00000382674.2	+	5	844	c.660C>T	c.(658-660)gaC>gaT	p.D220D	EVC_ENST00000264956.6_Silent_p.D220D|EVC_ENST00000509451.1_Silent_p.D220D			P57679	EVC_HUMAN	Ellis van Creveld syndrome	220					muscle organ development	integral to membrane				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				ACTTAAAAGACCTGCTGCATT	0.468000													63	281					0	0	1	0	0
OR10J1	26476	broad.mit.edu	37	1	159410278	159410278	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr1:159410278C>T	ENST00000423932.3	+	1	767	c.730C>T	c.(730-732)Cgg>Tgg	p.R244W	RP11-550P17.5_ENST00000431862.1_RNA	NM_012351.2	NP_036483.2	P30954	O10J1_HUMAN	olfactory receptor, family 10, subfamily J, member 1	244					sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					AGTTGAGGGCCGGAAGAAGGC	0.478000													7	57					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179592402	179592402	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr2:179592402A>C	ENST00000589042.1	-	68	20127	c.19903T>G	c.(19903-19905)Tca>Gca	p.S6635A	TTN_ENST00000591111.1_Missense_Mutation_p.S6318A|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.S5391A|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6318	Ig-like 48.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCATCCACTGAGTAGAGATTT	0.403000													13	220					0	0	1	0	0
FOLR4	390243	broad.mit.edu	37	11	94040719	94040719	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr11:94040719G>A	ENST00000440961.2	+	4	637	c.593G>A	c.(592-594)cGg>cAg	p.R198Q		NM_001199206.1	NP_001186135.1	A6ND01	FOLR4_HUMAN	folate receptor 4, delta (putative)	205						extracellular region	folic acid binding|receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14						AACAGTGGGCGGTGTCTCCAG	0.602000													4	150					0	0	1	0	0
KCNA5	3741	broad.mit.edu	37	12	5155075	5155075	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr12:5155075G>A	ENST00000252321.3	+	1	1991	c.1762G>A	c.(1762-1764)Gtc>Atc	p.V588I		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	588						Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52						GAAGTGTAACGTCAAGGCCAA	0.592000													3	27					0	0	1	0	0
MAPKBP1	23005	broad.mit.edu	37	15	42105829	42105829	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr15:42105829C>A	ENST00000457542.2	+	9	1116	c.830C>A	c.(829-831)gCc>gAc	p.A277D	MAPKBP1_ENST00000456763.2_Missense_Mutation_p.A283D|MAPKBP1_ENST00000514566.1_Missense_Mutation_p.A277D|MAPKBP1_ENST00000221214.6_Intron|MAPKBP1_ENST00000260357.7_Missense_Mutation_p.A165D	NM_014994.2	NP_055809.2	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	283										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		ACCACAGTGGCCCACTGCATC	0.582000													7	110					1.6384e-10	1.89046e-10	1	1	0
LAMA3	3909	broad.mit.edu	37	18	21492720	21492720	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr18:21492720C>T	ENST00000313654.9	+	56	7445	c.7204C>T	c.(7204-7206)Cga>Tga	p.R2402*	LAMA3_ENST00000399516.3_Nonsense_Mutation_p.R2346*|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000587184.1_Nonsense_Mutation_p.R737*|LAMA3_ENST00000269217.6_Nonsense_Mutation_p.R793*	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	2402	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)	AGTCGAAGTCCGACTGCCAAA	0.443000													8	86					0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32010244	32010244	+	Silent	SNP	C	C	G	rs149810124	byFrequency	TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr6:32010244C>G	ENST00000375244.3	-	40	12399	c.12198G>C	c.(12196-12198)ggG>ggC	p.G4066G	TNXB_ENST00000451343.1_Silent_p.G495G|TNXB_ENST00000375247.2_Silent_p.G4064G			P22105	TENX_HUMAN	tenascin XB	4111	Fibrinogen C-terminal.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GCCAGCCGCCCCCATCAGTCT	0.652000													5	71					0	0	1	0	0
ELOVL3	83401	broad.mit.edu	37	10	103986390	103986390	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr10:103986390T>C	ENST00000370005.3	+	1	306	c.85T>C	c.(85-87)Ttt>Ctt	p.F29L		NM_152310.1	NP_689523.1	Q9HB03	ELOV3_HUMAN	ELOVL fatty acid elongase 3	29					fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, polyunsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding			breast(2)|lung(10)|ovary(2)|prostate(1)|skin(1)	16		Colorectal(252;0.207)		Epithelial(162;4.47e-08)|all cancers(201;7.96e-07)		CATGAGGCCCTTTTTCGAGGA	0.532000													3	69					0	0	1	0	0
CNOT10	25904	broad.mit.edu	37	3	32800949	32800949	+	Splice_Site	SNP	G	G	C			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr3:32800949G>C	ENST00000328834.5	+	14	1911		c.e14-1		CNOT10_ENST00000454516.2_Splice_Site|CNOT10_ENST00000538368.1_Splice_Site|CNOT10_ENST00000331889.6_Splice_Site	NM_015442.2	NP_056257.1	Q9H9A5	CNOTA_HUMAN	CCR4-NOT transcription complex, subunit 10						nuclear-transcribed mRNA poly(A) tail shortening	cytosol	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(3)	23						TTGTGTTATAGGTGCTCCATA	0.428000													18	491					0	0	1	0	0
THNSL2	55258	broad.mit.edu	37	2	88484958	88484958	+	Missense_Mutation	SNP	G	G	A	rs144146961	by1000genomes	TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr2:88484958G>A	ENST00000324166.5	+	7	2880	c.1189G>A	c.(1189-1191)Gtg>Atg	p.V397M	THNSL2_ENST00000496844.1_Intron|THNSL2_ENST00000358591.2_Missense_Mutation_p.V397M|THNSL2_ENST00000377254.3_Intron|THNSL2_ENST00000402102.1_Intron|THNSL2_ENST00000449349.1_Intron|THNSL2_ENST00000343544.4_Intron	NM_018271.4	NP_060741.3	Q86YJ6	THNS2_HUMAN	threonine synthase-like 2 (S. cerevisiae)	397					threonine biosynthetic process		threonine synthase activity			breast(4)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	27						AGCGGTGGCCGTGAACTACCA	0.587000													3	19					0	0	1	0	0
CTD-3074O7.11	0	broad.mit.edu	37	11	66291013	66291013	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr11:66291013G>A	ENST00000419755.3	+	10	1106	c.1028G>A	c.(1027-1029)aGc>aAc	p.S343N	BBS1_ENST00000318312.7_Missense_Mutation_p.S306N|ZDHHC24_ENST00000526986.1_Intron|BBS1_ENST00000529766.1_3'UTR|BBS1_ENST00000393994.2_Intron|BBS1_ENST00000455748.2_Missense_Mutation_p.S209N																							GTGGTGGGCAGCACCCAAGAC	0.597000													3	82					0	0	1	0	0
SLC12A4	6560	broad.mit.edu	37	16	67988583	67988583	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr16:67988583G>C	ENST00000422611.2	-	5	683	c.644C>G	c.(643-645)gCa>gGa	p.A215G	SLC12A4_ENST00000541864.2_Missense_Mutation_p.A182G|SLC12A4_ENST00000576616.1_Missense_Mutation_p.A213G|SLC12A4_ENST00000338335.3_Missense_Mutation_p.A213G|SLC12A4_ENST00000316341.3_Missense_Mutation_p.A213G|SLC12A4_ENST00000572037.1_Missense_Mutation_p.A165G|SLC12A4_ENST00000572010.1_5'UTR|SLC12A4_ENST00000537830.2_Missense_Mutation_p.A207G	NM_001145962.1	NP_001139434.1	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 4	213					cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	GTACATGGCTGCTGCGAATGT	0.562000													5	86					0	0	1	0	0
LMTK2	22853	broad.mit.edu	37	7	97736519	97736521	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr7:97736519_97736521delGCT	ENST00000297293.5	+	1	323_325	c.30_32delGCT	c.(28-33)agg>ag	p.RL10del		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	10					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					TGCGGCGGAGGCTGCTGCTGCTG	0.764													2	4	---	---	---	---					
FAM66B	0	broad.mit.edu	37	8	7196263	7196264	+	RNA	DEL	AC	AC	-			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr8:7196263_7196264delAC	ENST00000606573.1	-	0	703																											ACTGAGGGGTacacacacacac	0.500													3	5	---	---	---	---					
JAG2	3714	broad.mit.edu	37	14	105615582	105615582	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr14:105615582delA	ENST00000331782.3	-	13	2081	c.1678delT	c.(1678-1680)gcfs	p.C560fs	JAG2_ENST00000347004.2_Frame_Shift_Del_p.C522fs	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	jagged 2	560	EGF-like 9.				auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		GGGCAGGCGCAGTAATAGTCA	0.662													62	334	---	---	---	---					
FMN1	342184	broad.mit.edu	37	15	33261113	33261114	+	Frame_Shift_Ins	INS	-	-	G			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr15:33261113_33261114insG	ENST00000334528.9	-	4	2118_2119	c.2119_2120insC	c.(2119-2121)tccfs	p.S707fs	FMN1_ENST00000559047.1_Frame_Shift_Ins_p.S930fs|FMN1_ENST00000561249.1_Frame_Shift_Ins_p.S832fs	NM_001103184.2	NP_001096654.1	Q68DA7	FMN1_HUMAN	formin 1	930	Mediates interaction with alpha-catenin (By similarity).				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		GGAGTTAGGAAgtgggggtggg	0.663													3	6	---	---	---	---					
LRRC59	55379	broad.mit.edu	37	17	48460506	48460508	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr17:48460506_48460508delAGC	ENST00000225972.7	-	7	1000_1002	c.765_767delGCT	c.(763-768)cta>ct	p.LL255del		NM_018509.3	NP_060979.2	Q96AG4	LRC59_HUMAN	leucine rich repeat containing 59	255	Poly-Leu.					endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial nucleoid	protein binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	13	Breast(11;5.62e-19)		BRCA - Breast invasive adenocarcinoma(22;2.43e-08)			CACACCAAATagcagcagcagca	0.606													2	4	---	---	---	---					
COL18A1	80781	broad.mit.edu	37	21	46911183	46911183	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr21:46911183delC	ENST00000359759.4	+	21	3378	c.3357delC	c.(3355-3357)ggfs	p.G1119fs	COL18A1_ENST00000355480.5_Frame_Shift_Del_p.G884fs|COL18A1_ENST00000400337.2_Frame_Shift_Del_p.G704fs			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	1119	Triple-helical region 4 (COL4).				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		GCCTCCCTGGCCCCCCCGGAC	0.692													8	89	---	---	---	---