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
RHBDD2	57414	broad.mit.edu	37	7	75517439	75517439	+	Silent	SNP	G	G	A			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr7:75517439G>A	ENST00000318622.4	+	5	1073	c.444G>A	c.(442-444)ggG>ggA	p.G148G	RHBDD2_ENST00000006777.6_Silent_p.G289G|RHBDD2_ENST00000468304.1_3'UTR|RHBDD2_ENST00000428119.1_Silent_p.G148G	NM_001040457.1	NP_001035547.1	Q6NTF9	RHBD2_HUMAN	rhomboid domain containing 2	289						integral to membrane	serine-type endopeptidase activity			kidney(1)|lung(4)|prostate(1)	6						GCACCCCCGGGCACATGCCCA	0.647000													4	152					0	0	0.009096	0	0
AK2	204	broad.mit.edu	37	1	33502361	33502361	+	Silent	SNP	A	A	G			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr1:33502361A>G	ENST00000373449.2	-	1	110	c.69T>C	c.(67-69)ccT>ccC	p.P23P	AK2_ENST00000467905.1_Silent_p.P23P|AK2_ENST00000354858.6_Silent_p.P23P|AK2_ENST00000548033.1_Silent_p.P23P|AK2_ENST00000480134.1_Silent_p.P23P|AK2_ENST00000487289.1_Silent_p.P23P	NM_001199199.1|NM_013411.4	NP_001186128.1|NP_037543.1	P54819	KAD2_HUMAN	adenylate kinase 2	23					nucleobase, nucleoside and nucleotide interconversion	mitochondrial intermembrane space	adenylate kinase activity|ATP binding			kidney(1)|large_intestine(2)|lung(4)|skin(1)	8		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				CGGCCCCGGGAGGCCCCAGCA	0.667000													2	10					0	0	0.004672	0	0
PRSS23	11098	broad.mit.edu	37	11	86518800	86518800	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr11:86518800G>A	ENST00000280258.5	+	2	540	c.115G>A	c.(115-117)Gtc>Atc	p.V39I	PRSS23_ENST00000441050.1_Missense_Mutation_p.V39I|PRSS23_ENST00000533902.2_Intron	NM_007173.4	NP_009104.1	O95084	PRS23_HUMAN	protease, serine, 23	39					proteolysis	extracellular region|nucleus	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	18		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CCGCCTCCCTGTCGTCTTGCC	0.537000													22	87					0	0	0.012319	0	0
CTRC	11330	broad.mit.edu	37	1	15771229	15771229	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr1:15771229G>A	ENST00000375949.4	+	6	648	c.622G>A	c.(622-624)Gtc>Atc	p.V208I	CTRC_ENST00000375943.2_Intron|CTRC_ENST00000483406.1_Intron	NM_007272.2	NP_009203.2	Q99895	CTRC_HUMAN	chymotrypsin C (caldecrin)	208	Peptidase S1.				proteolysis		serine-type endopeptidase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)	13		Breast(348;0.000207)|all_lung(284;0.00021)|Colorectal(325;0.000257)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)|Hepatocellular(190;0.0634)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GGGCGATGGCGTCATCTCAGC	0.612000													9	55					0	0	0.008291	0	0
DUPD1	338599	broad.mit.edu	37	10	76803647	76803647	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr10:76803647C>G	ENST00000338487.5	-	2	328	c.329G>C	c.(328-330)gGc>gCc	p.G110A		NM_001003892.1	NP_001003892.1	Q68J44	DUPD1_HUMAN	dual specificity phosphatase and pro isomerase domain containing 1	110	Tyrosine-protein phosphatase.					cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(2)|lung(5)|ovary(2)|urinary_tract(1)	11	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					GGCCTCCACGCCGTGGTACTG	0.637000													21	69					0	0	0.012319	0	0
PMEL	6490	broad.mit.edu	37	12	56351771	56351771	+	Silent	SNP	G	G	A			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr12:56351771G>A	ENST00000548747.1	-	5	1229	c.567C>T	c.(565-567)taC>taT	p.Y189Y	PMEL_ENST00000536427.1_Silent_p.Y189Y|PMEL_ENST00000552882.1_Silent_p.Y189Y|PMEL_ENST00000449260.2_Silent_p.Y189Y|PMEL_ENST00000548493.1_Silent_p.Y189Y|PMEL_ENST00000550447.1_Intron|PMEL_ENST00000548689.1_5'UTR|PMEL_ENST00000550464.1_Silent_p.Y103Y|PMEL_ENST00000539511.1_Silent_p.Y103Y|PMEL_ENST00000360714.4_Silent_p.Y189Y			P40967	PMEL_HUMAN	premelanosome protein	189					melanin biosynthetic process|melanosome organization	endoplasmic reticulum membrane|extracellular region|Golgi apparatus|integral to membrane|melanosome|multivesicular body membrane|plasma membrane	protein binding			NS(1)|breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CCCGGCGATGGTAGACAGTCA	0.577000													13	73					0	0	0.002450	0	0
SORCS3	22986	broad.mit.edu	37	10	106960976	106960976	+	Silent	SNP	A	A	C			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr10:106960976A>C	ENST00000369701.3	+	16	2453	c.2226A>C	c.(2224-2226)tcA>tcC	p.S742S	SORCS3_ENST00000369699.4_Silent_p.S28S	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	742						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		CAGTGGTCTCAGAACCCTGTG	0.522000													15	85					0	0	0.004007	0	0
INTS8	55656	broad.mit.edu	37	8	95839504	95839504	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr8:95839504G>A	ENST00000523731.1	+	3	452	c.319G>A	c.(319-321)Gta>Ata	p.V107I	INTS8_ENST00000447247.1_Missense_Mutation_p.V107I	NM_017864.2	NP_060334.2	Q75QN2	INT8_HUMAN	integrator complex subunit 8	107					snRNA processing	integrator complex	protein binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	28	Breast(36;1.05e-06)					GTCTGTTCCAGTATTGAATAT	0.383000													35	60					0	0	0.003271	0	0
SEZ6L2	26470	broad.mit.edu	37	16	29884953	29884953	+	Silent	SNP	C	C	A			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr16:29884953C>A	ENST00000308713.5	-	13	2729	c.2202G>T	c.(2200-2202)ctG>ctT	p.L734L	SEZ6L2_ENST00000537485.1_Silent_p.L690L|SEZ6L2_ENST00000350527.3_Silent_p.L664L|SEZ6L2_ENST00000346932.5_Silent_p.L620L	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	734	Sushi 4.					endoplasmic reticulum membrane|integral to membrane|plasma membrane				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TGTACCCTGGCAGGCAGCGGT	0.657000													6	45					0.00116845	0.00134464	0.001168	1	0
SOX2	6657	broad.mit.edu	37	3	181430873	181430873	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr3:181430873C>T	ENST00000325404.1	+	1	1152	c.725C>T	c.(724-726)tCg>tTg	p.S242L	SOX2_ENST00000431565.2_Missense_Mutation_p.S242L	NM_003106.3	NP_003097.1	P48431	SOX2_HUMAN	SRY (sex determining region Y)-box 2	242					cell cycle arrest|chromatin organization|eye development|glial cell fate commitment|inner ear development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell proliferation|negative regulation of neuron differentiation|osteoblast differentiation|pituitary gland development|positive regulation of MAPKKK cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of caspase activity|response to growth factor stimulus|response to wounding|somatic stem cell maintenance	cytosol|transcription factor complex	miRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|skin(1)	10	all_cancers(143;1.22e-16)|Ovarian(172;0.0283)		all cancers(12;1.82e-48)|Epithelial(37;9.85e-40)|OV - Ovarian serous cystadenocarcinoma(80;7.37e-23)|Lung(8;2.01e-21)|GBM - Glioblastoma multiforme(1;2.13e-08)			TCCATGGGTTCGGTGGTCAAG	0.652000			A		"""NSCLC, oesophageal squamous carcinoma"""		MICROPHTHALMIA AND ESOPHAGEAL ATRESIA SYNDROME						16	95					0	0	0.007413	0	0
LOC101927209	101927209	broad.mit.edu	37	1	142713773	142713773	+	RNA	SNP	C	C	G			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr1:142713773C>G	ENST00000369381.2	-	0	832																											TCTTTTTCCACATTGTCATTT	0.284000													4	50					0	0	0.001168	0	0
TADA1	117143	broad.mit.edu	37	1	166826916	166826916	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr1:166826916A>G	ENST00000367874.4	-	8	989	c.896T>C	c.(895-897)cTt>cCt	p.L299P	TADA1_ENST00000467021.1_5'UTR	NM_053053.3	NP_444281.1	Q96BN2	TADA1_HUMAN	transcriptional adaptor 1	299					histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	11						TTCAATGTTAAGAGCATAGAC	0.438000													26	63					0	0	0.003330	0	0
CASKIN2	57513	broad.mit.edu	37	17	73500710	73500710	+	Silent	SNP	C	C	T			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr17:73500710C>T	ENST00000321617.3	-	12	1843	c.1257G>A	c.(1255-1257)ggG>ggA	p.G419G	CASKIN2_ENST00000433559.2_Silent_p.G337G	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	CASK interacting protein 2	419						cytoplasm				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			CAGAGCTCTGCCCGCTGCCGG	0.642000													3	22					0	0	0.004672	0	0
CUBN	8029	broad.mit.edu	37	10	17126460	17126460	+	Splice_Site	SNP	G	G	A			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr10:17126460G>A	ENST00000377833.4	-	17	2176	c.2110_splice	c.e17-1	p.S704_splice		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	704					cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ACGCAGATCCGCTAAGAACAG	0.502000													7	17					0	0	0.003080	0	0
DNAH10	196385	broad.mit.edu	37	12	124268652	124268652	+	Silent	SNP	C	C	T			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr12:124268652C>T	ENST00000409039.3	+	8	1000	c.975C>T	c.(973-975)acC>acT	p.T325T		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	325	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.T325T(1)|p.T143T(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CAGTGTTCACCGAGTTATTCA	0.488000													17	62					0	0	0.007413	0	0
TRIM17	51127	broad.mit.edu	37	1	228596742	228596742	+	Silent	SNP	T	T	C			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr1:228596742T>C	ENST00000456946.2	-	6	1389	c.1014A>G	c.(1012-1014)ctA>ctG	p.L338L	TRIM17_ENST00000295033.3_Intron|RP11-245P10.4_ENST00000436779.1_RNA|TRIM17_ENST00000366697.2_Intron|TRIM17_ENST00000366698.2_Intron	NM_001134855.1	NP_001128327.1	Q9Y577	TRI17_HUMAN	tripartite motif containing 17	0	B30.2/SPRY.				protein autoubiquitination	intracellular	protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	10		Prostate(94;0.0724)				GCACAGTGAATAGCCAGTGAC	0.572000													3	14					0	0	0.004672	0	0
GAS7	8522	broad.mit.edu	37	17	9923233	9923233	+	Silent	SNP	A	A	T			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr17:9923233A>T	ENST00000579158.1	-	1	86	c.21T>A	c.(19-21)ctT>ctA	p.L7L	GAS7_ENST00000396115.1_Intron|GAS7_ENST00000323816.4_Intron|GAS7_ENST00000578655.1_Intron|GAS7_ENST00000432992.2_Intron|GAS7_ENST00000585266.1_Intron|GAS7_ENST00000437099.2_Intron|GAS7_ENST00000542249.1_Intron|GAS7_ENST00000540214.1_Intron			O60861	GAS7_HUMAN	growth arrest-specific 7	0	SH3.				cell cycle arrest	cytoplasm	sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(7)|lung(18)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	39						GAAGAAAGAAAAGGTCACACC	0.527000			T	MLL	AML*								11	50					0	0	0.008291	0	0
SEC24D	9871	broad.mit.edu	37	4	119727067	119727067	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr4:119727067C>G	ENST00000379735.5	-	7	1118	c.847G>C	c.(847-849)Gtt>Ctt	p.V283L	SEC24D_ENST00000419654.2_5'UTR|SEC24D_ENST00000280551.6_Missense_Mutation_p.V282L	NM_014822.2	NP_055637.2	O94855	SC24D_HUMAN	SEC24 family member D	282	Pro-rich.				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						GTGGCATAAACTTGTCCTCCT	0.428000													19	52					0	0	0.014323	0	0
ZDHHC8	29801	broad.mit.edu	37	22	20127696	20127696	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr22:20127696T>A	ENST00000334554.7	+	5	757	c.616T>A	c.(616-618)Ttc>Atc	p.F206I	ZDHHC8_ENST00000405930.3_Missense_Mutation_p.F206I|ZDHHC8_ENST00000468112.1_Intron|ZDHHC8_ENST00000320602.7_Intron	NM_013373.3	NP_037505.1	Q9ULC8	ZDHC8_HUMAN	zinc finger, DHHC-type containing 8	206						cytoplasmic vesicle membrane|integral to membrane	acyltransferase activity|zinc ion binding			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	20	Colorectal(54;0.0993)					CCTCACTGGCTTCCATGTGGT	0.637000													6	32					0	0	0.001168	0	0
MBTD1	54799	broad.mit.edu	37	17	49270365	49270365	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr17:49270365G>C	ENST00000586178.1	-	15	1811	c.1468C>G	c.(1468-1470)Cac>Gac	p.H490D	MBTD1_ENST00000415868.1_Missense_Mutation_p.H490D|MBTD1_ENST00000376381.2_3'UTR	NM_017643.2	NP_060113.2	Q05BQ5	MBTD1_HUMAN	mbt domain containing 1	490					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(22;1.54e-08)			CGAAATCCGTGATTTGGAACA	0.378000													20	99					0	0	0.012319	0	0
LAMC1	3915	broad.mit.edu	37	1	183095288	183095288	+	Silent	SNP	G	G	A			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr1:183095288G>A	ENST00000258341.4	+	16	3092	c.2835G>A	c.(2833-2835)ggG>ggA	p.G945G	LAMC1_ENST00000466964.1_3'UTR	NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	945	Laminin EGF-like 10.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CCACCAATGGGCAGTGTGACA	0.507000													14	41					0	0	0.003163	0	0
ACTN3	89	broad.mit.edu	37	11	66330375	66330375	+	RNA	SNP	G	G	C			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr11:66330375G>C	ENST00000513398.1	+	0	2594				ACTN3_ENST00000502692.1_RNA	NM_001104.2	NP_001095.1	Q08043	ACTN3_HUMAN	actinin, alpha 3 (gene/pseudogene)						focal adhesion assembly|muscle filament sliding|regulation of apoptosis	actin filament|cytosol|focal adhesion|pseudopodium	actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)	10						AGCCGAGACTGACACGACTGA	0.597000													5	161					0	0	0.000602	0	0
RBAK	57786	broad.mit.edu	37	7	5103363	5103363	+	Silent	SNP	A	A	G			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr7:5103363A>G	ENST00000396912.1	+	5	795	c.276A>G	c.(274-276)caA>caG	p.Q92Q	RBAK_ENST00000396904.2_Intron|RBAK_ENST00000353796.3_Silent_p.Q92Q|RBAK_ENST00000407184.1_Silent_p.Q92Q	NM_021163.3	NP_066986.1	Q9NYW8	RBAK_HUMAN	RB-associated KRAB zinc finger	92					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	10		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)		AGAGAATCCAAGAAAACGAAG	0.353000													4	20					0	0	0.009096	0	0
PRL	5617	broad.mit.edu	37	6	22290542	22290542	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr6:22290542G>T	ENST00000306482.1	-	4	871	c.353C>A	c.(352-354)tCc>tAc	p.S118Y	RP3-404K8.2_ENST00000561912.1_RNA	NM_000948.5|NM_001163558.2	NP_000939.1|NP_001157030.1	P01236	PRL_HUMAN	prolactin	118				S -> P (in Ref. 6; AAB70858).	cell proliferation|cell surface receptor linked signaling pathway|female pregnancy|lactation|positive regulation of JAK-STAT cascade|regulation of multicellular organism growth	cytosol|extracellular region	hormone activity|prolactin receptor binding			NS(1)|endometrium(2)|large_intestine(6)|lung(6)|prostate(1)	16	Ovarian(93;0.163)					CTCATTCCAGGATCGCAATAT	0.428000													4	48					0.000602214	0.000698569	0.000602	1	0
TRHDE	29953	broad.mit.edu	37	12	72863583	72863583	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr12:72863583G>T	ENST00000261180.4	+	4	1322	c.1226G>T	c.(1225-1227)tGg>tTg	p.W409L		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	409					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						ATGGAGAACTGGGGACTAAGT	0.378000													15	67					4.7546e-09	5.89246e-09	0.004007	1	0
MORC2	22880	broad.mit.edu	37	22	31333632	31333632	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr22:31333632G>A	ENST00000215862.4	-	16	2613	c.1250C>T	c.(1249-1251)cCa>cTa	p.P417L	MORC2_ENST00000397641.2_Missense_Mutation_p.P479L|MORC2_ENST00000469915.1_Intron	NM_014941.1	NP_055756.1	Q9Y6X9	MORC2_HUMAN	MORC family CW-type zinc finger 2	479							ATP binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	21						CTCACTGGATGGGGGCTGGTT	0.547000													10	58					0	0	0.006214	0	0
METTL14	57721	broad.mit.edu	37	4	119621732	119621732	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr4:119621732G>C	ENST00000388822.4	+	8	840	c.673G>C	c.(673-675)Gca>Cca	p.A225P	METTL14_ENST00000506780.1_Missense_Mutation_p.A187P			Q9HCE5	MTL14_HUMAN	methyltransferase like 14	225						nucleus	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1)	16						TGATGAGATTGCAGCACCTCG	0.348000													8	51					0	0	0.006214	0	0
PHACTR4	65979	broad.mit.edu	37	1	28800237	28800237	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr1:28800237C>G	ENST00000373839.3	+	7	1256	c.995C>G	c.(994-996)tCg>tGg	p.S332W	PHACTR4_ENST00000493669.1_3'UTR|PHACTR4_ENST00000373836.3_Missense_Mutation_p.S342W	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4	332	Pro-rich.						actin binding|protein phosphatase inhibitor activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		TCTATGGGCTCGGAACTACTA	0.537000													35	122					0	0	0.004289	0	0
ZFHX4	79776	broad.mit.edu	37	8	77763207	77763207	+	Silent	SNP	G	G	C			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr8:77763207G>C	ENST00000521891.2	+	10	4498	c.4050G>C	c.(4048-4050)ccG>ccC	p.P1350P	ZFHX4_ENST00000455469.2_Silent_p.P1305P|ZFHX4_ENST00000518282.1_Silent_p.P1324P|ZFHX4_ENST00000050961.6_Silent_p.P1305P	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1305						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AGCAGAAACCGACTAAAGAAC	0.398000										HNSCC(33;0.089)			8	32					0	0	0.003080	0	0
ZNF154	7710	broad.mit.edu	37	19	58213526	58213526	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr19:58213526C>T	ENST00000512439.2	-	3	987	c.791G>A	c.(790-792)cGg>cAg	p.R264Q	ZNF154_ENST00000426889.1_Missense_Mutation_p.R264Q|AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000596085.1_Intron			Q13106	ZN154_HUMAN	zinc finger protein 154	264						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(7)|lung(3)	12		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		GTGAACTCCCCGATGTTGAAG	0.453000													23	90					0	0	0.012319	0	0
TGDS	23483	broad.mit.edu	37	13	95230316	95230316	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr13:95230316G>T	ENST00000261296.5	-	9	888	c.768C>A	c.(766-768)aaC>aaA	p.N256K		NM_014305.2	NP_055120.1	O95455	TGDS_HUMAN	TDP-glucose 4,6-dehydratase	256					cellular metabolic process		coenzyme binding|dTDP-glucose 4,6-dehydratase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8	all_neural(89;0.0684)|Medulloblastoma(90;0.163)					TGGTTCCGATGTTATAAATTT	0.358000													7	34					0.00198382	0.00224729	0.001984	1	0
CACNA1H	8912	broad.mit.edu	37	16	1260937	1260937	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr16:1260937G>A	ENST00000348261.5	+	21	4437	c.4189G>A	c.(4189-4191)Gtg>Atg	p.V1397M	CACNA1H_ENST00000358590.4_Missense_Mutation_p.V1397M|CACNA1H_ENST00000565831.1_Missense_Mutation_p.V1397M	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	1397					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	TGTTCTGCGCGTGCTGCGTCT	0.682000													39	141					0	0	0.008740	0	0
TNXB	7148	broad.mit.edu	37	6	32020730	32020730	+	Silent	SNP	C	C	T			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr6:32020730C>T	ENST00000375244.3	-	26	9033	c.8832G>A	c.(8830-8832)acG>acA	p.T2944T	TNXB_ENST00000375247.2_Silent_p.T2942T			P22105	TENX_HUMAN	tenascin XB	2989	Fibronectin type-III 21.				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						CCGGGGCCTCCGTGCTGGGTT	0.657000													14	100					0	0	0.004007	0	0
NUDT22	84304	broad.mit.edu	37	11	63994371	63994371	+	Missense_Mutation	SNP	G	G	T	rs143695088	by1000genomes	TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr11:63994371G>T	ENST00000279206.3	+	2	403	c.247G>T	c.(247-249)Ggc>Tgc	p.G83C	NUDT22_ENST00000441250.2_Missense_Mutation_p.G83C	NM_001128612.2|NM_032344.2	NP_001122084.1|NP_115720.1	Q9BRQ3	NUD22_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 22	83							hydrolase activity			breast(1)|endometrium(1)|large_intestine(2)|lung(4)	8						CCTGCGCCTGGGCCTTACTTC	0.662000													20	75					1.64113e-05	1.95053e-05	0.010504	1	0
TRBV3-1	28619	broad.mit.edu	37	7	142008732	142008732	+	RNA	SNP	A	A	C			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr7:142008732A>C	ENST00000390387.3	+	0	252																											GTTTAGCTACAATAATAAGGA	0.348000													8	90					0	0	0.004482	0	0
RIPPLY2	134701	broad.mit.edu	37	6	84563844	84563844	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr6:84563844C>T	ENST00000369689.1	+	3	354	c.203C>T	c.(202-204)gCc>gTc	p.A68V	RIPPLY2_ENST00000369687.1_Missense_Mutation_p.A10V	NM_001009994.1	NP_001009994.1	Q5TAB7	RIPP2_HUMAN	ripply transcriptional repressor 2	68					somite rostral/caudal axis specification	nucleus				large_intestine(2)|lung(4)|urinary_tract(1)	7						ATGACCGCAGCCTCAGGAAAG	0.587000													10	56					0	0	0.008291	0	0
HMMR	3161	broad.mit.edu	37	5	162900509	162900509	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr5:162900509T>G	ENST00000416990.2	+	9	1002	c.505T>G	c.(505-507)Tct>Gct	p.S169A	HMMR_ENST00000432118.2_Missense_Mutation_p.S197A|HMMR_ENST00000393915.4_Missense_Mutation_p.S284A|HMMR_ENST00000353866.3_Missense_Mutation_p.S268A|HMMR_ENST00000358715.3_Missense_Mutation_p.S283A			O75330	HMMR_HUMAN	hyaluronan-mediated motility receptor (RHAMM)	283						cell surface|cytoplasm	hyaluronic acid binding			cervix(1)|kidney(3)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	23	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)		TGTTATATTATCTAAACAAGT	0.289000													5	45					0	0	0.000602	0	0
PMEL	6490	broad.mit.edu	37	12	56351770	56351770	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr12:56351770G>A	ENST00000548747.1	-	5	1230	c.568C>T	c.(568-570)Cat>Tat	p.H190Y	PMEL_ENST00000536427.1_Missense_Mutation_p.H190Y|PMEL_ENST00000552882.1_Missense_Mutation_p.H190Y|PMEL_ENST00000449260.2_Missense_Mutation_p.H190Y|PMEL_ENST00000548493.1_Missense_Mutation_p.H190Y|PMEL_ENST00000550447.1_Intron|PMEL_ENST00000548689.1_5'UTR|PMEL_ENST00000550464.1_Missense_Mutation_p.H104Y|PMEL_ENST00000539511.1_Missense_Mutation_p.H104Y|PMEL_ENST00000360714.4_Missense_Mutation_p.H190Y			P40967	PMEL_HUMAN	premelanosome protein	190					melanin biosynthetic process|melanosome organization	endoplasmic reticulum membrane|extracellular region|Golgi apparatus|integral to membrane|melanosome|multivesicular body membrane|plasma membrane	protein binding			NS(1)|breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CCCCGGCGATGGTAGACAGTC	0.577000													13	71					0	0	0.002450	0	0
ATG4A	115201	broad.mit.edu	37	X	107393409	107393409	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chrX:107393409A>G	ENST00000372232.3	+	10	1001	c.842A>G	c.(841-843)cAt>cGt	p.H281R	ATG4A_ENST00000545696.1_Missense_Mutation_p.H142R|ATG4A_ENST00000372254.3_Missense_Mutation_p.H257R|COL4A6_ENST00000418180.1_Intron|ATG4A_ENST00000345734.3_Missense_Mutation_p.H219R|ATG4A_ENST00000489247.1_3'UTR	NM_052936.3	NP_443168.2	Q8WYN0	ATG4A_HUMAN	autophagy related 4A, cysteine peptidase	281					autophagy|protein transport|proteolysis	cytoplasm	cysteine-type peptidase activity			endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)	11						TTGGACCCTCATACAACCCAG	0.493000													70	200					0	0	0.014410	0	0
NUP50	10762	broad.mit.edu	37	22	45574201	45574201	+	Silent	SNP	C	C	T			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr22:45574201C>T	ENST00000347635.3	+	5	889	c.423C>T	c.(421-423)tcC>tcT	p.S141S	NUP50_ENST00000425733.2_5'UTR|NUP50_ENST00000486184.1_3'UTR|NUP50_ENST00000407019.2_Silent_p.S113S|NUP50_ENST00000396096.2_Silent_p.S113S	NM_007172.3	NP_009103.2	Q9UKX7	NUP50_HUMAN	nucleoporin 50kDa	141	5 X 2 AA repeats of F-G.				carbohydrate metabolic process|glucose transport|intracellular transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore|nucleoplasm	protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9		Ovarian(80;0.00965)|all_neural(38;0.0244)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		AGCAGCCCTCCTCCTCTGGCC	0.483000													10	40					0	0	0.013537	0	0
ERI1	90459	broad.mit.edu	37	8	8869134	8869134	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr8:8869134G>T	ENST00000523898.1	+	4	1049	c.370G>T	c.(370-372)Gac>Tac	p.D124Y	ERI1_ENST00000519292.1_Missense_Mutation_p.D124Y|ERI1_ENST00000250263.7_Missense_Mutation_p.D124Y			Q8IV48	ERI1_HUMAN	exoribonuclease 1	124					gene silencing by RNA|rRNA 3'-end processing	cytoplasm|histone pre-mRNA 3'end processing complex|nucleolus	3'-5' exonuclease activity|histone pre-mRNA stem-loop binding|metal ion binding|ribosome binding|rRNA binding			NS(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)	11					Adenosine monophosphate(DB00131)	CAATTTTGCTGACAGTTATTA	0.348000													17	30					1.02788e-11	1.29603e-11	0.004990	1	0
ANKFN1	162282	broad.mit.edu	37	17	54428211	54428211	+	Silent	SNP	C	C	T			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr17:54428211C>T	ENST00000566473.2	+	4	282	c.282C>T	c.(280-282)aaC>aaT	p.N94N	ANKFN1_ENST00000318698.2_Silent_p.N94N			Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	94										NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						CATCTCCCAACGCAGCCAAAC	0.448000													9	45					0	0	0.006214	0	0
WASF2	10163	broad.mit.edu	37	1	27736225	27736225	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr1:27736225T>A	ENST00000430629.2	-	8	1515	c.1300A>T	c.(1300-1302)Agc>Tgc	p.S434C	WASF2_ENST00000536657.1_Intron	NM_001201404.1|NM_006990.3	NP_001188333.1|NP_008921.1	Q9Y6W5	WASF2_HUMAN	WAS protein family, member 2	434					actin cytoskeleton organization|G-protein signaling, coupled to cAMP nucleotide second messenger	actin cytoskeleton|lamellipodium	actin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	18		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0446)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.7e-08)|COAD - Colon adenocarcinoma(152;2e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00139)|KIRC - Kidney renal clear cell carcinoma(1967;0.00204)|STAD - Stomach adenocarcinoma(196;0.00325)|READ - Rectum adenocarcinoma(331;0.0481)		CGGGCATCGCTCACGGCAGGC	0.577000													12	72					0	0	0.001855	0	0
AHNAK2	113146	broad.mit.edu	37	14	105409742	105409742	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr14:105409742G>T	ENST00000333244.5	-	7	12165	c.12046C>A	c.(12046-12048)Ctc>Atc	p.L4016I	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4016						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TGAACGCTGAGGTCAGTGGCC	0.657000													113	238					3.68091e-61	4.76547e-61	0.014410	1	0
CTNND2	1501	broad.mit.edu	37	5	11082866	11082866	+	Silent	SNP	G	G	A			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr5:11082866G>A	ENST00000304623.8	-	16	2919	c.2730C>T	c.(2728-2730)tgC>tgT	p.C910C	CTNND2_ENST00000511377.1_Silent_p.C819C|CTNND2_ENST00000503622.1_Silent_p.C573C|CTNND2_ENST00000359640.2_Silent_p.C852C|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000458100.2_Silent_p.C477C	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	910					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	p.C910C(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						TGGCCACCGCGCACACCACAC	0.527000													20	77					0	0	0.010504	0	0
RRP12	23223	broad.mit.edu	37	10	99132919	99132919	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr10:99132919A>C	ENST00000370992.4	-	18	2176	c.2065T>G	c.(2065-2067)Ttt>Gtt	p.F689V	RRP12_ENST00000479481.1_5'UTR|RRP12_ENST00000315563.6_Missense_Mutation_p.F589V|RRP12_ENST00000414986.1_Missense_Mutation_p.F628V|RRP12_ENST00000536831.1_Missense_Mutation_p.F407V	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog (S. cerevisiae)	689						integral to membrane|nuclear membrane|nucleolus	protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		ATCGGCAGAAAGTTCTTGGCA	0.567000													4	74					0	0	0.009096	0	0
SIRPB1	10326	broad.mit.edu	37	20	1600540	1600540	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr20:1600540C>A	ENST00000381605.4	-	1	115	c.51G>T	c.(49-51)atG>atT	p.M17I	SIRPB1_ENST00000381596.1_5'UTR|SIRPB1_ENST00000381603.3_Missense_Mutation_p.M17I|RP4-576H24.4_ENST00000564763.1_Missense_Mutation_p.M17I|SIRPB1_ENST00000568365.1_Missense_Mutation_p.M17I|SIRPB1_ENST00000279477.7_Missense_Mutation_p.M17I	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	17					cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding			central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						GCAGTAGCGTCATCAGCAGGA	0.562000													7	62					1.12685e-05	1.35036e-05	0.004482	1	0
ZNF628	89887	broad.mit.edu	37	19	55995170	55995170	+	Silent	SNP	G	G	A			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr19:55995170G>A	ENST00000391718.2	+	3	3163	c.2598G>A	c.(2596-2598)gtG>gtA	p.V866V	ZNF628_ENST00000598519.1_Silent_p.V870V			Q5EBL2	ZN628_HUMAN	zinc finger protein 628	866						nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|lung(2)	7	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)		TCCAGCCCGTGGCCGGCCAGC	0.647000													6	42					0	0	0.001168	0	0
MAOB	4129	broad.mit.edu	37	X	43698134	43698134	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chrX:43698134G>A	ENST00000378069.4	-	3	406	c.259C>T	c.(259-261)Cgt>Tgt	p.R87C	MAOB_ENST00000538942.1_Missense_Mutation_p.R71C|MAOB_ENST00000487544.1_5'UTR|MAOB_ENST00000536181.1_Missense_Mutation_p.R71C	NM_000898.4	NP_000889.3	P27338	AOFB_HUMAN	monoamine oxidase B	87					xenobiotic metabolic process	integral to membrane|mitochondrial outer membrane	electron carrier activity|primary amine oxidase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(2)|skin(5)	21					Amantadine(DB00915)|Bupropion(DB01156)|Carbidopa(DB00190)|Citalopram(DB00215)|Dopamine(DB00988)|Entacapone(DB00494)|Furazolidone(DB00614)|Ginkgo biloba(DB01381)|Ibuprofen(DB01050)|Imipramine(DB00458)|Iproniazid(DB04818)|Isocarboxazid(DB01247)|Levodopa(DB01235)|Maprotiline(DB00934)|Meclizine(DB00737)|Moclobemide(DB01171)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Rasagiline(DB01367)|Selegiline(DB01037)|Tranylcypromine(DB00752)	TGGATCAGACGCTCAACCTCA	0.433000													18	82					0	0	0.008871	0	0
MAGEA5	4104	broad.mit.edu	37	X	151283638	151283638	+	RNA	SNP	T	T	G			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chrX:151283638T>G	ENST00000509345.2	-	0	698																											GCTCCTTGACTTAATACTTGA	0.512000													34	136					0	0	0.005524	0	0
ZKSCAN8	7745	broad.mit.edu	37	6	28116421	28116421	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr6:28116421G>T	ENST00000330236.6	+	2	420	c.236G>T	c.(235-237)tGg>tTg	p.W79L	ZKSCAN8_ENST00000457389.2_Missense_Mutation_p.W79L	NM_001278119.1|NM_001278121.1|NM_001278122.1|NM_006298.2	NP_001265048.1|NP_001265050.1|NP_001265051.1|NP_006289.2			zinc finger with KRAB and SCAN domains 8																		TGCCATCAGTGGCTGAGGCCA	0.562000													13	65					4.3838e-07	5.34161e-07	0.001855	1	0
ZWILCH	55055	broad.mit.edu	37	15	66828269	66828269	+	Splice_Site	SNP	A	A	T			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr15:66828269A>T	ENST00000307897.5	+	15	1721		c.e15-1		ZWILCH_ENST00000535141.2_Splice_Site|ZWILCH_ENST00000565627.1_Splice_Site|ZWILCH_ENST00000446801.2_Splice_Site	NM_017975.3	NP_060445.3	Q9H900	ZWILC_HUMAN	zwilch kinetochore protein						cell division|mitotic cell cycle checkpoint|mitotic prometaphase	condensed chromosome kinetochore|cytosol	protein binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(1)|lung(6)|ovary(1)	18						TTTTCATTCCAGGAATACTTC	0.343000													4	50					0	0	0.000602	0	0
TTN	7273	broad.mit.edu	37	2	179483053	179483053	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr2:179483053G>T	ENST00000589042.1	-	252	47356	c.47132C>A	c.(47131-47133)gCa>gAa	p.A15711E	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.A6646E|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A13143E|TTN_ENST00000342175.6_Missense_Mutation_p.A6838E|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A6771E|TTN_ENST00000591111.1_Missense_Mutation_p.A14070E	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	14070	Ig-like 98.						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)			ACAACTCTCTGCACGGTCTGT	0.463000													15	87					6.31663e-08	7.76196e-08	0.003163	1	0
TUBB8P7	197331	broad.mit.edu	37	16	90161578	90161578	+	RNA	SNP	G	G	A	rs13337896	by1000genomes	TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr16:90161578G>A	ENST00000564451.1	+	0	931				TUBB8P7_ENST00000567960.1_RNA														p.R105H(3)									GCCAAGGGACGCTACACCGAA	0.587000													4	54					0	0	0.009096	0	0
TRIM51HP	440041	broad.mit.edu	37	11	55065365	55065365	+	RNA	SNP	A	A	G			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr11:55065365A>G	ENST00000526016.1	-	0	343					NR_038174.2																						ACTCAATGGGACAGTGTCTGT	0.468000													13	26					0	0	0.002450	0	0
KCTD2	23510	broad.mit.edu	37	17	73059132	73059132	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr17:73059132C>T	ENST00000322444.6	+	6	788	c.782C>T	c.(781-783)tCg>tTg	p.S261L	KCTD2_ENST00000581589.1_Missense_Mutation_p.S62L	NM_015353.1	NP_056168.1	Q14681	KCTD2_HUMAN	potassium channel tetramerization domain containing 2	261						voltage-gated potassium channel complex	voltage-gated potassium channel activity			kidney(1)|lung(2)	3	all_lung(278;0.226)					GAGAGAGGATCGCGGATGTAA	0.552000													4	21					0	0	0.009096	0	0
YIPF2	78992	broad.mit.edu	37	19	11038315	11038315	+	Silent	SNP	G	G	A			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr19:11038315G>A	ENST00000586748.1	-	4	442	c.270C>T	c.(268-270)gaC>gaT	p.D90D	YIPF2_ENST00000590329.1_Silent_p.D90D|YIPF2_ENST00000253031.2_Silent_p.D90D			Q9BWQ6	YIPF2_HUMAN	Yip1 domain family, member 2	90						integral to membrane|transport vesicle				cervix(1)|endometrium(1)|lung(3)|ovary(2)	7						CCTGTGAGGTGTCCACGTCAA	0.602000													7	40					0	0	0.004482	0	0
DYNC2H1	79659	broad.mit.edu	37	11	103022985	103022985	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr11:103022985G>T	ENST00000375735.2	+	21	3211	c.3067G>T	c.(3067-3069)Gaa>Taa	p.E1023*	DYNC2H1_ENST00000398093.3_Nonsense_Mutation_p.E1023*|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	1023	Stem (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		GTTAATGATGGAAAGTCACCA	0.303000													6	45					0.00198382	0.00224729	0.001984	1	0
ABCG2	9429	broad.mit.edu	37	4	89052340	89052340	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr4:89052340G>T	ENST00000237612.3	-	5	949	c.404C>A	c.(403-405)aCg>aAg	p.T135K	ABCG2_ENST00000515655.1_Missense_Mutation_p.T135K	NM_004827.2	NP_004818.2	Q9UNQ0	ABCG2_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 2	135	ABC transporter.				cellular iron ion homeostasis|urate metabolic process	integral to membrane|plasma membrane	ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity			breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	Imatinib(DB00619)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nitrendipine(DB01054)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Topotecan(DB01030)	TTCTCTCACCGTCAGAGTGCC	0.378000													10	88					0.00621372	0.00687778	0.006214	1	0
MLLT4	4301	broad.mit.edu	37	6	168281147	168281147	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr6:168281147G>C	ENST00000366806.2	+	6	989	c.847G>C	c.(847-849)Gag>Cag	p.E283Q	MLLT4_ENST00000400822.3_Missense_Mutation_p.E282Q|MLLT4_ENST00000392108.3_Missense_Mutation_p.E283Q|MLLT4_ENST00000392112.1_Missense_Mutation_p.E282Q|MLLT4_ENST00000351017.4_Missense_Mutation_p.E283Q|MLLT4_ENST00000447894.2_Missense_Mutation_p.E283Q|MLLT4_ENST00000344191.4_Missense_Mutation_p.E283Q			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	283	Ras-associating 2.				adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		TGAAGCTTTAGAGAAGTATGG	0.383000			T	MLL	AL								16	157					0	0	0.003163	0	0
SVEP1	79987	broad.mit.edu	37	9	113233781	113233781	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr9:113233781T>C	ENST00000401783.2	-	16	3197	c.2861A>G	c.(2860-2862)aAa>aGa	p.K954R	SVEP1_ENST00000302728.8_Missense_Mutation_p.K954R|SVEP1_ENST00000374469.1_Missense_Mutation_p.K931R|SVEP1_ENST00000467821.1_5'UTR	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	954					cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GAGAGTCCTTTTCAGTTTATT	0.403000													3	40					0	0	0.004672	0	0
FRMD4A	55691	broad.mit.edu	37	10	13698719	13698719	+	Missense_Mutation	SNP	G	G	A	rs143274194		TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr10:13698719G>A	ENST00000357447.2	-	22	3238	c.2870C>T	c.(2869-2871)tCg>tTg	p.S957L	FRMD4A_ENST00000378503.1_Missense_Mutation_p.S957L|FRMD4A_ENST00000358621.4_Missense_Mutation_p.S942L	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	957	Ser-rich.					cytoplasm|cytoskeleton	binding			breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						GCTGTACTGCGAGCCGCTGTC	0.667000													4	37					0	0	0.009096	0	0
ZDHHC5	25921	broad.mit.edu	37	11	57466839	57466839	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr11:57466839C>T	ENST00000287169.3	+	11	3293	c.1931C>T	c.(1930-1932)cCt>cTt	p.P644L	ZDHHC5_ENST00000527985.1_Missense_Mutation_p.P591L	NM_015457.2	NP_056272.2	Q9C0B5	ZDHC5_HUMAN	zinc finger, DHHC-type containing 5	644						integral to membrane	acyltransferase activity|zinc ion binding			endometrium(6)|kidney(3)|large_intestine(3)|lung(5)|skin(1)	18						AAAGCCCAACCTGGTGTCTCT	0.527000													22	66					0	0	0.014323	0	0
MMP3	4314	broad.mit.edu	37	11	102709884	102709884	+	Silent	SNP	G	G	A			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr11:102709884G>A	ENST00000299855.5	-	7	1282	c.1026C>T	c.(1024-1026)gcC>gcT	p.A342A		NM_002422.3	NP_002413.1	P08254	MMP3_HUMAN	matrix metallopeptidase 3 (stromelysin 1, progelatinase)	342	Hemopexin-like 2.				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.A342A(1)		endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0142)	Marimastat(DB00786)|Simvastatin(DB00641)	CTTCATATGCGGCATCCACGC	0.378000													21	59					0	0	0.002780	0	0
EMC9	51016	broad.mit.edu	37	14	24610485	24610485	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr14:24610485G>C	ENST00000419198.2	-	1	309	c.29C>G	c.(28-30)gCc>gGc	p.A10G	EMC9_ENST00000560403.1_Intron|EMC9_ENST00000558200.1_5'UTR|EMC9_ENST00000216799.4_Missense_Mutation_p.A10G					ER membrane protein complex subunit 9																		CTTCACGTAGGCCAGGGCCGA	0.657000											OREG0022618	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	56	68					0	0	0.014410	0	0
NBN	4683	broad.mit.edu	37	8	90949281	90949281	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr8:90949281T>C	ENST00000265433.3	-	15	2361	c.2207A>G	c.(2206-2208)gAa>gGa	p.E736G	NBN_ENST00000409330.1_Missense_Mutation_p.E654G	NM_002485.4	NP_002476.2	O60934	NBN_HUMAN	nibrin	736					cell cycle arrest|DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance	Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm	protein N-terminus binding|transcription factor binding			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(11;0.0344)			AAGAGACTCTTCTTTTGCATG	0.299000								Homologous recombination					6	30					0	0	0.001168	0	0
ABCA5	23461	broad.mit.edu	37	17	67270205	67270205	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr17:67270205T>C	ENST00000392676.3	-	20	2723	c.2659A>G	c.(2659-2661)Aaa>Gaa	p.K887E	ABCA5_ENST00000588877.1_Missense_Mutation_p.K887E|ABCA5_ENST00000392677.2_Missense_Mutation_p.K887E			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	887					cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)					ACAGCATTTTTAAAAGAGTGA	0.323000													13	48					0	0	0.001855	0	0
LRFN4	78999	broad.mit.edu	37	11	66626406	66626406	+	Silent	SNP	C	C	T			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr11:66626406C>T	ENST00000309602.4	+	1	1434	c.1191C>T	c.(1189-1191)gcC>gcT	p.A397A	PC_ENST00000393955.2_Intron|LRFN4_ENST00000393952.3_Intron|PC_ENST00000393958.2_Intron|PC_ENST00000393960.1_Intron	NM_024036.4	NP_076941.2	Q6PJG9	LRFN4_HUMAN	leucine rich repeat and fibronectin type III domain containing 4	397						integral to membrane				breast(1)|lung(1)|prostate(1)	3						GCACTGCTGCCGAGGGTGAGG	0.731000													5	57					0	0	0.000602	0	0
TSSC2	650368	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	C	T			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr11:3427845C>T	ENST00000529482.1	+	0	962																											CTTCAAGTGGCAGGAGCAGAA	0.587000													6	70					0	0	0.001168	0	0
HLA-DMB	3109	broad.mit.edu	37	6	32906579	32906579	+	Silent	SNP	C	C	T			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr6:32906579C>T	ENST00000416244.2	-	2	413	c.219G>A	c.(217-219)gcG>gcA	p.A73A	HLA-DMB_ENST00000418107.2_Silent_p.A73A|XXbac-BPG181M17.5_ENST00000429234.1_Silent_p.A105A			P28068	DMB_HUMAN	major histocompatibility complex, class II, DM beta	73	Beta-1.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	integral to membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex		p.A73A(2)		breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						AGAGGACATTCGCCAAGCTAT	0.527000													17	96					0	0	0.004007	0	0
CHI3L2	1117	broad.mit.edu	37	1	111778261	111778261	+	Splice_Site	SNP	G	G	T			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr1:111778261G>T	ENST00000445067.2	+	8	1252	c.480_splice	c.e8-1	p.E161_splice	CHI3L2_ENST00000369748.4_Splice_Site_p.E161_splice|CHI3L2_ENST00000369744.2_Splice_Site_p.E151_splice|CHI3L2_ENST00000524472.1_Splice_Site_p.E82_splice|CHI3L2_ENST00000466741.1_Splice_Site_p.E82_splice			Q15782	CH3L2_HUMAN	chitinase 3-like 2	161					chitin catabolic process	extracellular space	cation binding|chitinase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|prostate(1)	19		all_cancers(81;1.89e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359)		Lung(183;0.0171)|Colorectal(144;0.0387)|all cancers(265;0.0464)|LUSC - Lung squamous cell carcinoma(189;0.0872)|Epithelial(280;0.0994)|COAD - Colon adenocarcinoma(174;0.141)		TTTTTCCTAGGAGTTAGCAGA	0.448000													28	79					2.44723e-14	3.14025e-14	0.004656	1	0
SAMD9L	219285	broad.mit.edu	37	7	92762824	92762824	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr7:92762824C>T	ENST00000318238.4	-	5	3677	c.2461G>A	c.(2461-2463)Gtt>Att	p.V821I	SAMD9L_ENST00000437805.1_Missense_Mutation_p.V821I|SAMD9L_ENST00000411955.1_Missense_Mutation_p.V821I	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	821										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			TCTGCTAAAACGGAATGGATG	0.383000													20	52					0	0	0.007413	0	0
LRGUK	136332	broad.mit.edu	37	7	133886291	133886291	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr7:133886291G>C	ENST00000285928.2	+	15	1875	c.1806G>C	c.(1804-1806)ttG>ttC	p.L602F		NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain containing	602							ATP binding|kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						ACCTTGGATTGACTGAGGAAC	0.388000													7	48					0	0	0.004482	0	0
TMEM2	23670	broad.mit.edu	37	9	74364981	74364981	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr9:74364981T>C	ENST00000377044.4	-	2	848	c.309A>G	c.(307-309)atA>atG	p.I103M	TMEM2_ENST00000377066.5_Missense_Mutation_p.I103M	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	103						integral to membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		ATTTTGAGGATATTCCTAAAA	0.294000													6	29					0	0	0.001168	0	0
TUBB8P7	197331	broad.mit.edu	37	16	90161618	90161618	+	RNA	SNP	C	C	T	rs13338202	by1000genomes	TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr16:90161618C>T	ENST00000564451.1	+	0	971				TUBB8P7_ENST00000567960.1_RNA														p.D118D(2)									CAGTGATGGACGTTGTCAGAA	0.607000													4	58					0	0	0.000602	0	0
CCNB3	85417	broad.mit.edu	37	X	50052074	50052074	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chrX:50052074C>G	ENST00000376042.1	+	6	1203	c.905C>G	c.(904-906)cCa>cGa	p.P302R	CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000276014.7_Missense_Mutation_p.P302R|CCNB3_ENST00000376038.1_Intron			Q8WWL7	CCNB3_HUMAN	cyclin B3	302					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding			breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					TTTAGGAAGCCACCAGTATTG	0.418000													7	73					0	0	0.001984	0	0
LOC101927209	101927209	broad.mit.edu	37	1	142713774	142713774	+	RNA	SNP	A	A	G			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr1:142713774A>G	ENST00000369381.2	-	0	831																											CTTTTTCCACATTGTCATTTT	0.284000													4	49					0	0	0.001168	0	0
ARID1B	57492	broad.mit.edu	37	6	157525122	157525122	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr6:157525122C>G	ENST00000346085.5	+	19	5018	c.5017C>G	c.(5017-5019)Ctc>Gtc	p.L1673V	ARID1B_ENST00000367148.1_Missense_Mutation_p.L1713V|ARID1B_ENST00000350026.5_Missense_Mutation_p.L1660V|ARID1B_ENST00000275248.4_Missense_Mutation_p.L1655V	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1660					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		TACTTTCAATCTCTCCCAGGT	0.428000													75	258					0	0	0.014410	0	0
TP53	7157	broad.mit.edu	37	17	7578235	7578235	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr17:7578235T>C	ENST00000420246.2	-	6	746	c.614A>G	c.(613-615)tAt>tGt	p.Y205C	TP53_ENST00000359597.4_Missense_Mutation_p.Y205C|TP53_ENST00000455263.2_Missense_Mutation_p.Y205C|TP53_ENST00000269305.4_Missense_Mutation_p.Y205C|TP53_ENST00000413465.2_Missense_Mutation_p.Y205C|TP53_ENST00000445888.2_Missense_Mutation_p.Y205C|TP53_ENST00000574684.1_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	205	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Y -> C (in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in sporadic cancers; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (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.Y205C(68)|p.Y205S(14)|p.Y205F(8)|p.0?(8)|p.Y112C(5)|p.?(5)|p.Y73C(5)|p.Y73S(1)|p.Y112S(1)|p.E204fs*39(1)|p.E204_N210delEYLDDRN(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)		GTCATCCAAATACTCCACACG	0.542000		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)			20	26					0	0	0.007413	0	0
TUBB8P7	197331	broad.mit.edu	37	16	90161902	90161902	+	RNA	SNP	A	A	G	rs6500471	by1000genomes	TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr16:90161902A>G	ENST00000564451.1	+	0	1255				TUBB8P7_ENST00000567960.1_RNA														p.K213R(8)									ATATGTTCCAAGACCCTAAAA	0.537000													6	66					0	0	0.003080	0	0
SWAP70	23075	broad.mit.edu	37	11	9759763	9759763	+	Silent	SNP	C	C	T			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr11:9759763C>T	ENST00000318950.6	+	8	1187	c.1084C>T	c.(1084-1086)Ctg>Ttg	p.L362L	SWAP70_ENST00000447399.2_Silent_p.L304L	NM_015055.2	NP_055870.2	Q9UH65	SWP70_HUMAN	SWAP switching B-cell complex 70kDa subunit	362						cytoplasm|lamellipodium|nucleus|plasma membrane	calcium ion binding|DNA binding			NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)	11				all cancers(16;1.21e-10)|Epithelial(150;2.81e-09)|BRCA - Breast invasive adenocarcinoma(625;0.00649)		TGGCTAGAAACTGGAGGAAGC	0.448000													11	29					0	0	0.010729	0	0
XRRA1	143570	broad.mit.edu	37	11	74562186	74562186	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr11:74562186T>G	ENST00000340360.6	-	14	1634	c.1303A>C	c.(1303-1305)Aag>Cag	p.K435Q	XRRA1_ENST00000321448.8_Missense_Mutation_p.K160Q|XRRA1_ENST00000527087.1_Missense_Mutation_p.K348Q	NM_182969.2	NP_892014.1	Q6P2D8	XRRA1_HUMAN	X-ray radiation resistance associated 1	435					response to X-ray	cytoplasm|nucleus				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(3)	20						TTTACTATCTTCCTTCGAATT	0.498000													10	35					0	0	0.006214	0	0
VWA5A	4013	broad.mit.edu	37	11	123993667	123993667	+	Splice_Site	SNP	G	G	A			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr11:123993667G>A	ENST00000456829.2	+	8	1012	c.760_splice	c.e8-1	p.G254_splice	VWA5A_ENST00000449321.1_Splice_Site_p.G254_splice|VWA5A_ENST00000361352.5_Splice_Site_p.G254_splice|VWA5A_ENST00000360334.4_Splice_Site_p.G254_splice|VWA5A_ENST00000392748.1_Splice_Site_p.G254_splice|VWA5A_ENST00000392744.4_Splice_Site_p.G270_splice	NM_001130142.1	NP_001123614.1	O00534	VMA5A_HUMAN	von Willebrand factor A domain containing 5A	254										autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						TTCTGAACAGGTCATTTGATG	0.383000													4	38					0	0	0.009096	0	0
MC2R	4158	broad.mit.edu	37	18	13885391	13885391	+	Silent	SNP	G	G	A			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr18:13885391G>A	ENST00000327606.3	-	2	307	c.127C>T	c.(127-129)Ctg>Ttg	p.L43L		NM_000529.2	NP_000520.1	Q01718	ACTHR_HUMAN	melanocortin 2 receptor (adrenocorticotropic hormone)	43					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	corticotropin receptor activity|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30					Corticotropin(DB01285)|Cosyntropin(DB01284)	AGGACGATCAGATTCTCCAAA	0.428000													11	30					0	0	0.008291	0	0
KCNT2	343450	broad.mit.edu	37	1	196197396	196197396	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr1:196197396G>T	ENST00000367433.5	-	27	3395	c.3294C>A	c.(3292-3294)tgC>tgA	p.C1098*	KCNT2_ENST00000294725.8_Nonsense_Mutation_p.C1122*|KCNT2_ENST00000451324.2_3'UTR|KCNT2_ENST00000367431.4_Nonsense_Mutation_p.C1056*|KCNT2_ENST00000498426.1_5'UTR			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	1122						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						CAGTGACATTGCAGATGCTGT	0.363000													5	23					0.000602214	0.000698569	0.000602	1	0
ACBD3	64746	broad.mit.edu	37	1	226334387	226334387	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr1:226334387T>C	ENST00000366812.5	-	8	1565	c.1511A>G	c.(1510-1512)tAt>tGt	p.Y504C		NM_022735.3	NP_073572.2	Q9H3P7	GCP60_HUMAN	acyl-CoA binding domain containing 3	504	GOLD.				steroid biosynthetic process|transport	Golgi membrane|integral to membrane|mitochondrion	fatty-acyl-CoA binding|protein binding			breast(2)|endometrium(3)|large_intestine(5)|lung(7)|skin(1)|urinary_tract(2)	20	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.121)		CTTGAGGAGATAGACTCCTCT	0.453000													18	81					0	0	0.004990	0	0
LMTK2	22853	broad.mit.edu	37	7	97821898	97821898	+	Silent	SNP	C	C	T			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr7:97821898C>T	ENST00000297293.5	+	11	2414	c.2121C>T	c.(2119-2121)caC>caT	p.H707H		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	707					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)					ATCTTATGCACCAAGATAATT	0.363000													14	75					0	0	0.004007	0	0
TTN	7273	broad.mit.edu	37	2	179549086	179549086	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr2:179549086G>A	ENST00000589042.1	-	132	32917	c.32693C>T	c.(32692-32694)aCt>aTt	p.T10898I	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T9654I|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.T10581I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10581	Glu-rich.|Pro-rich.						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)			CTCTTTTTTAGTTACAGCAAC	0.398000													4	36					0	0	0.009096	0	0
SNHG12	85028	broad.mit.edu	37	1	28907393	28907393	+	RNA	SNP	A	A	G			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr1:28907393A>G	ENST00000488745.1	-	0	1013				SNHG12_ENST00000483436.1_RNA|SNHG12_ENST00000475441.1_RNA|SNHG12_ENST00000531126.1_RNA																							ATTTTGATAAAGGTCTCTGGC	0.463000													29	83					0	0	0.008361	0	0
HIST1H3F	8968	broad.mit.edu	37	6	26250638	26250638	+	Silent	SNP	G	G	A			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr6:26250638G>A	ENST00000446824.2	-	1	197	c.196C>T	c.(196-198)Cta>Tta	p.L66L		NM_021018.2	NP_066298.1	P68431	H31_HUMAN	histone cluster 1, H3f	66					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			lung(6)|urinary_tract(1)	7						TGGAATGGTAGCTTGCGAATC	0.612000											OREG0017241	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	117					0	0	0.004007	0	0
MUC4	4585	broad.mit.edu	37	3	195505836	195505836	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr3:195505836G>C	ENST00000463781.3	-	2	13074	c.12615C>G	c.(12613-12615)caC>caG	p.H4205Q	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.H4205Q	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	968					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	p.H4205Q(10)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GAGGGGTGGCGTGACCTGTGG	0.597000													4	4					0	0	0.000602	0	0
NPAT	4863	broad.mit.edu	37	11	108044157	108044157	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr11:108044157T>A	ENST00000278612.8	-	13	1659	c.1554A>T	c.(1552-1554)gaA>gaT	p.E518D		NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	518					positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		CATTGTTAGCTTCACAACCAA	0.348000													19	51					0	0	0.008871	0	0
SLC9A1	6548	broad.mit.edu	37	1	27427055	27427055	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr1:27427055C>T	ENST00000263980.3	-	12	2766	c.2191G>A	c.(2191-2193)Gac>Aac	p.D731N	SLC9A1_ENST00000545949.1_Missense_Mutation_p.D392N	NM_003047.4	NP_003038.2	P19634	SL9A1_HUMAN	solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1	731					regulation of pH	integral to membrane	sodium:hydrogen antiporter activity			central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046)	Amiloride(DB00594)	TTCACCAGGTCCACAGACTCG	0.602000													61	246					0	0	0.014410	0	0
TMTC1	83857	broad.mit.edu	37	12	29659813	29659813	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr12:29659813C>T	ENST00000256062.5	-	18	2764	c.2291G>A	c.(2290-2292)cGa>cAa	p.R764Q	TMTC1_ENST00000551659.1_Missense_Mutation_p.R934Q|TMTC1_ENST00000539277.1_Missense_Mutation_p.R872Q|TMTC1_ENST00000552618.1_Missense_Mutation_p.R896Q|TMTC1_ENST00000319685.8_5'UTR	NM_175861.3	NP_787057.2	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	872						integral to membrane	binding	p.R764Q(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					TTCTTGTAATCGTTTTTCTAG	0.448000													15	143					0	0	0.004007	0	0
OBSCN	84033	broad.mit.edu	37	1	228431117	228431117	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr1:228431117G>A	ENST00000570156.2	+	11	3513	c.3439G>A	c.(3439-3441)Gag>Aag	p.E1147K	OBSCN_ENST00000422127.1_Missense_Mutation_p.E1055K|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.E1055K	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	83	Ig-like 11.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	p.E1055K(4)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CTACAGCTGCGAGGCCAGGGG	0.552000													8	35					0	0	0.004482	0	0
TLK1	9874	broad.mit.edu	37	2	171906348	171906348	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr2:171906348C>G	ENST00000442919.2	-	10	1427	c.812G>C	c.(811-813)gGt>gCt	p.G271A	TLK1_ENST00000521943.1_Missense_Mutation_p.G271A|TLK1_ENST00000431350.2_Missense_Mutation_p.G319A|TLK1_ENST00000360843.3_Missense_Mutation_p.G340A|TLK1_ENST00000434911.2_Missense_Mutation_p.G223A	NM_012290.4	NP_036422.3	Q9UKI8	TLK1_HUMAN	tousled-like kinase 1	319					cell cycle|chromatin modification|intracellular protein transport|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|liver(3)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						AAATGCAAAACCATCTGTCCA	0.348000													12	49					0	0	0.001855	0	0
MAP2K5	5607	broad.mit.edu	37	15	67995696	67995696	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr15:67995696C>A	ENST00000178640.5	+	16	1621	c.994C>A	c.(994-996)Cag>Aag	p.Q332K	MAP2K5_ENST00000340972.4_Missense_Mutation_p.Q142K|MAP2K5_ENST00000395476.2_Missense_Mutation_p.Q332K|MAP2K5_ENST00000354498.5_Missense_Mutation_p.Q296K	NM_145160.2	NP_660143.1	Q13163	MP2K5_HUMAN	mitogen-activated protein kinase kinase 5	332	Protein kinase.				nerve growth factor receptor signaling pathway		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|skin(1)	16						TTCAGGGGAGCAGTATGGAAT	0.423000													22	91					1.10923e-09	1.38654e-09	0.002780	1	0
ZMYM4	9202	broad.mit.edu	37	1	35853113	35853113	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr1:35853113A>T	ENST00000314607.6	+	13	2251	c.2171A>T	c.(2170-2172)aAt>aTt	p.N724I	ZMYM4_ENST00000373297.2_Missense_Mutation_p.N635I	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN	zinc finger, MYM-type 4	724					multicellular organismal development		DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				AAAATAAATAATGTAATGGCA	0.318000													12	34					0	0	0.013537	0	0
LENG8	114823	broad.mit.edu	37	19	54965698	54965698	+	Silent	SNP	C	C	T			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr19:54965698C>T	ENST00000326764.5	+	6	995	c.516C>T	c.(514-516)ccC>ccT	p.P172P	LENG8_ENST00000376514.2_Intron	NM_052925.2	NP_443157.1	Q96PV6	LENG8_HUMAN	leukocyte receptor cluster (LRC) member 8	135							protein binding			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)		CCTCAAATCCCCCACATGGGG	0.687000													4	24					0	0	0.009096	0	0
ENPP4	22875	broad.mit.edu	37	6	46107985	46107985	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr6:46107985A>G	ENST00000321037.4	+	2	895	c.665A>G	c.(664-666)aAg>aGg	p.K222R		NM_014936.4	NP_055751.1	Q9Y6X5	ENPP4_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative)	222						integral to membrane	hydrolase activity			central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	18						CAAAGACTCAAGATGTTAGGG	0.408000													17	68					0	0	0.004990	0	0
PICALM	8301	broad.mit.edu	37	11	85712203	85712203	+	Splice_Site	SNP	T	T	A			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr11:85712203T>A	ENST00000526033.1	-	10	1210		c.e10-2		PICALM_ENST00000393346.3_Splice_Site|PICALM_ENST00000356360.5_Splice_Site|PICALM_ENST00000532317.1_Splice_Site|PICALM_ENST00000528398.1_Splice_Site	NM_001206946.1|NM_007166.3	NP_001193875.1|NP_009097.2	Q13492	PICAL_HUMAN	phosphatidylinositol binding clathrin assembly protein						clathrin coat assembly|endosome transport|negative regulation of receptor-mediated endocytosis|positive regulation of transcription, DNA-dependent|receptor internalization|regulation of protein localization	clathrin coat|clathrin-coated vesicle|coated pit|Golgi apparatus|nucleus|postsynaptic membrane|presynaptic membrane	1-phosphatidylinositol binding|clathrin heavy chain binding			endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19		Acute lymphoblastic leukemia(157;7.42e-07)|all_hematologic(158;0.00092)				GTAGTTGCCCTAGGATAATTG	0.443000			T	"""MLLT10, MLL"""	"""TALL, AML, """								21	75					0	0	0.012319	0	0
ZNF284	342909	broad.mit.edu	37	19	44590486	44590486	+	Silent	SNP	G	G	A			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr19:44590486G>A	ENST00000421176.3	+	5	1071	c.855G>A	c.(853-855)aaG>aaA	p.K285K	ZNF223_ENST00000591793.1_3'UTR	NM_001037813.2	NP_001032902.1	Q2VY69	ZN284_HUMAN	zinc finger protein 284	285					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0435)				CTGGGGAGAAGCCATTCAAAT	0.393000													23	72					0	0	0.003954	0	0
ZFAS1	441951	broad.mit.edu	37	20	47897282	47897282	+	RNA	SNP	A	A	G			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr20:47897282A>G	ENST00000450535.1	+	0	730				SNORD12_ENST00000391002.1_RNA|ZFAS1_ENST00000441722.1_RNA|ZFAS1_ENST00000371743.3_RNA|ZFAS1_ENST00000326677.5_RNA|ZFAS1_ENST00000417721.1_RNA|ZFAS1_ENST00000458653.1_RNA|ZFAS1_ENST00000428008.1_RNA																							TCTCTACACTATTGGCCAGTT	0.443000													21	78					0	0	0.003330	0	0
MAS1L	116511	broad.mit.edu	37	6	29455526	29455526	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr6:29455526G>A	ENST00000377127.3	-	1	212	c.154C>T	c.(154-156)Ctt>Ttt	p.L52F		NM_052967.1	NP_443199.1	P35410	MAS1L_HUMAN	MAS1 oncogene-like	52						cytoplasm|integral to membrane|nucleus|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						TCATTTTGAAGAAAGACGCCA	0.507000													20	56					0	0	0.010504	0	0
NEB	4703	broad.mit.edu	37	2	152375496	152375496	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr2:152375496T>G	ENST00000427231.2	-	155	22880	c.22678A>C	c.(22678-22680)Agc>Cgc	p.S7560R	NEB_ENST00000604864.1_Missense_Mutation_p.S7560R|NEB_ENST00000409198.1_Missense_Mutation_p.S5859R|NEB_ENST00000172853.10_Missense_Mutation_p.S5859R|NEB_ENST00000603639.1_Missense_Mutation_p.S7560R|NEB_ENST00000397345.3_Missense_Mutation_p.S7560R	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	5859					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GCAAGTTGGCTTGTATTCAGG	0.423000													5	32					0	0	0.000602	0	0
CRHBP	1393	broad.mit.edu	37	5	76251503	76251503	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr5:76251503G>A	ENST00000274368.4	+	4	781	c.359G>A	c.(358-360)gGg>gAg	p.G120E	CRHBP_ENST00000506501.1_Missense_Mutation_p.G120E	NM_001882.3	NP_001873.2	P24387	CRHBP_HUMAN	corticotropin releasing hormone binding protein	120					female pregnancy|learning or memory|signal transduction	soluble fraction		p.G120E(1)		kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	16		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-51)|Epithelial(54;8.79e-46)|all cancers(79;2.49e-41)		ATTCTCAAGGGGGAGAAGTTC	0.458000													14	52					0	0	0.004990	0	0
CNTNAP1	8506	broad.mit.edu	37	17	40842782	40842782	+	Silent	SNP	G	G	A			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr17:40842782G>A	ENST00000264638.4	+	13	2098	c.1881G>A	c.(1879-1881)cgG>cgA	p.R627R	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	627	Fibrinogen C-terminal.				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		CAGTTGTGCGGCATGACAGGC	0.587000													4	148					0	0	0.009096	0	0
WBP11P1	441818	broad.mit.edu	37	18	30093118	30093118	+	RNA	SNP	G	G	T			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr18:30093118G>T	ENST00000567636.1	+	0	1493					NR_003558.1																						CCTTTACCCTGACTTTTACCT	0.607000													3	19					0.004672	0.00521108	0.004672	1	0
TFAM	7019	broad.mit.edu	37	10	60148561	60148561	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr10:60148561A>T	ENST00000487519.1	+	4	949	c.423A>T	c.(421-423)aaA>aaT	p.K141N	TFAM_ENST00000373895.3_Missense_Mutation_p.K141N|TFAM_ENST00000373899.3_3'UTR	NM_003201.1	NP_003192.1	Q00059	TFAM_HUMAN	transcription factor A, mitochondrial	141					DNA-dependent DNA replication|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase I promoter|transcription initiation from mitochondrial promoter	mitochondrial nucleoid	mitochondrial light strand promoter sense binding|protein binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(1)|lung(4)|prostate(1)	7						TAAAAAGGAAAGCTATGACAA	0.264000													19	69					0	0	0.008871	0	0
ZNF512	84450	broad.mit.edu	37	2	27822849	27822849	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr2:27822849G>A	ENST00000355467.4	+	5	469	c.386G>A	c.(385-387)cGg>cAg	p.R129Q	ZNF512_ENST00000379717.1_Missense_Mutation_p.R128Q|ZNF512_ENST00000416005.2_Intron|ZNF512_ENST00000413371.2_Missense_Mutation_p.R52Q|ZNF512_ENST00000556601.1_Missense_Mutation_p.G40S|RP11-158I13.2_ENST00000505973.1_RNA|ZNF512_ENST00000494548.1_3'UTR			Q96ME7	ZN512_HUMAN	zinc finger protein 512	129					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)					AGGAAGCAACGGCCTAAAACT	0.473000													6	18					0	0	0.004482	0	0
CEACAM18	729767	broad.mit.edu	37	19	51986513	51986513	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr19:51986513A>T	ENST00000396477.4	+	4	937	c.916A>T	c.(916-918)Atc>Ttc	p.I306F	CEACAM18_ENST00000451626.1_Missense_Mutation_p.I367F	NM_001278392.1	NP_001265321.1	A8MTB9	CEA18_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 18	367	Ig-like C2-type.					integral to membrane				breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1)	17		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		GACACAGCTGATCATGTACAT	0.582000													22	57					0	0	0.012319	0	0
EP400	57634	broad.mit.edu	37	12	132534871	132534871	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr12:132534871A>G	ENST00000333577.4	+	41	7421	c.7312A>G	c.(7312-7314)Aaa>Gaa	p.K2438E	EP400_ENST00000330386.6_Missense_Mutation_p.K2321E|EP400_ENST00000389561.2_Missense_Mutation_p.K2402E|EP400_ENST00000332482.4_Missense_Mutation_p.K2365E|EP400_ENST00000389562.2_Missense_Mutation_p.K2401E			Q96L91	EP400_HUMAN	E1A binding protein p400	2438					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		ATTGCAGAGTAAAAACAACCG	0.507000													16	71					0	0	0.007413	0	0
CNTN2	6900	broad.mit.edu	37	1	205034950	205034950	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr1:205034950G>A	ENST00000331830.4	+	14	2013	c.1729G>A	c.(1729-1731)Gcc>Acc	p.A577T		NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	577	Ig-like C2-type 6.				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CATCCTGAACGCCCAGCTGCG	0.642000													15	53					0	0	0.004007	0	0
OR4M2	390538	broad.mit.edu	37	15	22369305	22369305	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr15:22369305T>G	ENST00000332663.2	+	1	828	c.730T>G	c.(730-732)Tcc>Gcc	p.S244A	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	244					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		CACCTGCTATTCCCACATTAC	0.448000													19	136					0	0	0.003954	0	0
SEL1L2	80343	broad.mit.edu	37	20	13856702	13856702	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr20:13856702A>T	ENST00000284951.5	-	12	1160	c.1086T>A	c.(1084-1086)ttT>ttA	p.F362L	SEL1L2_ENST00000378072.5_Missense_Mutation_p.F362L|SEL1L2_ENST00000486903.1_5'UTR			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	362						integral to membrane	binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						CTGCCATGGAAAAGTACTTGA	0.393000													42	110					0	0	0.014410	0	0
TG	7038	broad.mit.edu	37	8	133925427	133925427	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr8:133925427C>A	ENST00000220616.4	+	20	4335	c.4295C>A	c.(4294-4296)aCc>aAc	p.T1432N	TG_ENST00000377869.1_Missense_Mutation_p.T1432N	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1432					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CACTTTGGCACCTCTCCCAGG	0.557000													15	57					2.23348e-06	2.69879e-06	0.004007	1	0
GPR112	139378	broad.mit.edu	37	X	135430046	135430046	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chrX:135430046T>C	ENST00000394143.1	+	6	4472	c.4181T>C	c.(4180-4182)gTg>gCg	p.V1394A	GPR112_ENST00000412101.1_Missense_Mutation_p.V1189A|GPR112_ENST00000394141.1_Missense_Mutation_p.V1189A|GPR112_ENST00000370652.1_Missense_Mutation_p.V1394A|GPR112_ENST00000287534.4_Missense_Mutation_p.V1331A	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1394					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CCCAGGACTGTGGAAATGATA	0.453000													49	175					0	0	0.014410	0	0
XIRP2	129446	broad.mit.edu	37	2	168106357	168106357	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr2:168106357G>A	ENST00000409195.1	+	9	8544	c.8455G>A	c.(8455-8457)Gaa>Aaa	p.E2819K	XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.E2819K|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.E2597K	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2644					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TCCAGGAAGTGAAGAAAAAAA	0.393000													8	32					0	0	0.003080	0	0
PRAMEF10	343071	broad.mit.edu	37	1	12954474	12954474	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr1:12954474T>A	ENST00000235347.4	-	3	888	c.809A>T	c.(808-810)cAg>cTg	p.Q270L		NM_001039361.3	NP_001034450.2	O60809	PRA10_HUMAN	PRAME family member 10	270										NS(2)|breast(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	12	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ATAAAGCATCTGGGGGTAGTA	0.473000													41	165					0	0	0.014410	0	0
RHBDD2	57414	broad.mit.edu	37	7	75517439	75517439	+	Silent	SNP	G	G	A			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	f094c9d6-47ab-4e33-84cd-aeae08aaf264	g.chr7:75517439G>A	ENST00000318622.4	+	5	1073	c.444G>A	c.(442-444)ggG>ggA	p.G148G	RHBDD2_ENST00000428119.1_Silent_p.G148G|RHBDD2_ENST00000006777.6_Silent_p.G289G|RHBDD2_ENST00000468304.1_3'UTR	NM_001040457.1	NP_001035547.1	Q6NTF9	RHBD2_HUMAN	rhomboid domain containing 2	289						integral to membrane	serine-type endopeptidase activity			kidney(1)|lung(4)|prostate(1)	6						GCACCCCCGGGCACATGCCCA	0.647000													4	152					0	0	0.009096	0	0
AK2	204	broad.mit.edu	37	1	33502361	33502361	+	Silent	SNP	A	A	G			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	f094c9d6-47ab-4e33-84cd-aeae08aaf264	g.chr1:33502361A>G	ENST00000373449.2	-	1	110	c.69T>C	c.(67-69)ccT>ccC	p.P23P	AK2_ENST00000548033.1_Silent_p.P23P|AK2_ENST00000467905.1_Silent_p.P23P|AK2_ENST00000354858.6_Silent_p.P23P|AK2_ENST00000487289.1_Silent_p.P23P|AK2_ENST00000480134.1_Silent_p.P23P	NM_001199199.1|NM_013411.4	NP_001186128.1|NP_037543.1	P54819	KAD2_HUMAN	adenylate kinase 2	23					nucleobase, nucleoside and nucleotide interconversion	mitochondrial intermembrane space	adenylate kinase activity|ATP binding			kidney(1)|large_intestine(2)|lung(4)|skin(1)	8		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				CGGCCCCGGGAGGCCCCAGCA	0.667000													2	10					0	0	0.004672	0	0
PRSS23	11098	broad.mit.edu	37	11	86518800	86518800	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	f094c9d6-47ab-4e33-84cd-aeae08aaf264	g.chr11:86518800G>A	ENST00000280258.5	+	2	540	c.115G>A	c.(115-117)Gtc>Atc	p.V39I	PRSS23_ENST00000441050.1_Missense_Mutation_p.V39I|PRSS23_ENST00000533902.2_Intron	NM_007173.4	NP_009104.1	O95084	PRS23_HUMAN	protease, serine, 23	39					proteolysis	extracellular region|nucleus	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	18		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CCGCCTCCCTGTCGTCTTGCC	0.537000													22	87					0	0	0.012319	0	0
CTRC	11330	broad.mit.edu	37	1	15771229	15771229	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	f094c9d6-47ab-4e33-84cd-aeae08aaf264	g.chr1:15771229G>A	ENST00000375949.4	+	6	648	c.622G>A	c.(622-624)Gtc>Atc	p.V208I	CTRC_ENST00000483406.1_Intron|CTRC_ENST00000375943.2_Intron	NM_007272.2	NP_009203.2	Q99895	CTRC_HUMAN	chymotrypsin C (caldecrin)	208	Peptidase S1.				proteolysis		serine-type endopeptidase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)	13		Breast(348;0.000207)|all_lung(284;0.00021)|Colorectal(325;0.000257)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)|Hepatocellular(190;0.0634)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GGGCGATGGCGTCATCTCAGC	0.612000													9	55					0	0	0.008291	0	0
SLC9A5	6553	broad.mit.edu	37	16	67298319	67298319	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	f094c9d6-47ab-4e33-84cd-aeae08aaf264	g.chr16:67298319T>G	ENST00000299798.11	+	13	1972	c.1907T>G	c.(1906-1908)gTc>gGc	p.V636G		NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN	solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5	636					regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity	p.V636G(1)		breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		GACAAGGAGGTCTTCCAGCAG	0.587000													6	40					0	0	0.001855	0	0
PMEL	6490	broad.mit.edu	37	12	56351771	56351771	+	Silent	SNP	G	G	A			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	f094c9d6-47ab-4e33-84cd-aeae08aaf264	g.chr12:56351771G>A	ENST00000548747.1	-	5	1229	c.567C>T	c.(565-567)taC>taT	p.Y189Y	PMEL_ENST00000539511.1_Silent_p.Y103Y|PMEL_ENST00000536427.1_Silent_p.Y189Y|PMEL_ENST00000548493.1_Silent_p.Y189Y|PMEL_ENST00000360714.4_Silent_p.Y189Y|PMEL_ENST00000548689.1_5'UTR|PMEL_ENST00000449260.2_Silent_p.Y189Y|PMEL_ENST00000550447.1_Intron|PMEL_ENST00000550464.1_Silent_p.Y103Y|PMEL_ENST00000552882.1_Silent_p.Y189Y			P40967	PMEL_HUMAN	premelanosome protein	189					melanin biosynthetic process|melanosome organization	endoplasmic reticulum membrane|extracellular region|Golgi apparatus|integral to membrane|melanosome|multivesicular body membrane|plasma membrane	protein binding			NS(1)|breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CCCGGCGATGGTAGACAGTCA	0.577000													13	73					0	0	0.002450	0	0
SORCS3	22986	broad.mit.edu	37	10	106960976	106960976	+	Silent	SNP	A	A	C			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	f094c9d6-47ab-4e33-84cd-aeae08aaf264	g.chr10:106960976A>C	ENST00000369701.3	+	16	2453	c.2226A>C	c.(2224-2226)tcA>tcC	p.S742S	SORCS3_ENST00000369699.4_Silent_p.S28S	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	742						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		CAGTGGTCTCAGAACCCTGTG	0.522000													15	85					0	0	0.004007	0	0
INTS8	55656	broad.mit.edu	37	8	95839504	95839504	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	f094c9d6-47ab-4e33-84cd-aeae08aaf264	g.chr8:95839504G>A	ENST00000523731.1	+	3	452	c.319G>A	c.(319-321)Gta>Ata	p.V107I	INTS8_ENST00000447247.1_Missense_Mutation_p.V107I	NM_017864.2	NP_060334.2	Q75QN2	INT8_HUMAN	integrator complex subunit 8	107					snRNA processing	integrator complex	protein binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	28	Breast(36;1.05e-06)					GTCTGTTCCAGTATTGAATAT	0.383000													35	60					0	0	0.003271	0	0
SEZ6L2	26470	broad.mit.edu	37	16	29884953	29884953	+	Silent	SNP	C	C	A			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	f094c9d6-47ab-4e33-84cd-aeae08aaf264	g.chr16:29884953C>A	ENST00000308713.5	-	13	2729	c.2202G>T	c.(2200-2202)ctG>ctT	p.L734L	SEZ6L2_ENST00000350527.3_Silent_p.L664L|SEZ6L2_ENST00000346932.5_Silent_p.L620L|SEZ6L2_ENST00000537485.1_Silent_p.L690L	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	734	Sushi 4.					endoplasmic reticulum membrane|integral to membrane|plasma membrane				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TGTACCCTGGCAGGCAGCGGT	0.657000													6	45					0.00116845	0.00130866	0.001168	1	0
SOX2	6657	broad.mit.edu	37	3	181430873	181430873	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	f094c9d6-47ab-4e33-84cd-aeae08aaf264	g.chr3:181430873C>T	ENST00000325404.1	+	1	1152	c.725C>T	c.(724-726)tCg>tTg	p.S242L	SOX2_ENST00000431565.2_Missense_Mutation_p.S242L	NM_003106.3	NP_003097.1	P48431	SOX2_HUMAN	SRY (sex determining region Y)-box 2	242					cell cycle arrest|chromatin organization|eye development|glial cell fate commitment|inner ear development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell proliferation|negative regulation of neuron differentiation|osteoblast differentiation|pituitary gland development|positive regulation of MAPKKK cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of caspase activity|response to growth factor stimulus|response to wounding|somatic stem cell maintenance	cytosol|transcription factor complex	miRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|skin(1)	10	all_cancers(143;1.22e-16)|Ovarian(172;0.0283)		all cancers(12;1.82e-48)|Epithelial(37;9.85e-40)|OV - Ovarian serous cystadenocarcinoma(80;7.37e-23)|Lung(8;2.01e-21)|GBM - Glioblastoma multiforme(1;2.13e-08)			TCCATGGGTTCGGTGGTCAAG	0.652000			A		"""NSCLC, oesophageal squamous carcinoma"""		MICROPHTHALMIA AND ESOPHAGEAL ATRESIA SYNDROME						16	95					0	0	0.007413	0	0
KCNT2	343450	broad.mit.edu	37	1	196197396	196197396	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	f094c9d6-47ab-4e33-84cd-aeae08aaf264	g.chr1:196197396G>T	ENST00000367433.5	-	27	3395	c.3294C>A	c.(3292-3294)tgC>tgA	p.C1098*	KCNT2_ENST00000451324.2_3'UTR|KCNT2_ENST00000367431.4_Nonsense_Mutation_p.C1056*|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000294725.8_Nonsense_Mutation_p.C1122*			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	1122						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						CAGTGACATTGCAGATGCTGT	0.363000													5	23					0.000602214	0.000679919	0.000602	1	0
FRG1BP	284802	broad.mit.edu	37	20	29625947	29625947	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	f094c9d6-47ab-4e33-84cd-aeae08aaf264	g.chr20:29625947T>C	ENST00000278882.3	+	5	571	c.191T>C	c.(190-192)aTt>aCt	p.I64T	FRG1B_ENST00000439954.2_Missense_Mutation_p.I69T|FRG1B_ENST00000358464.4_Missense_Mutation_p.I64T														p.I64T(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TCAGATGCAATTGGACCAAGA	0.343000													3	54					0	0	0.009096	0	0
TADA1	117143	broad.mit.edu	37	1	166826916	166826916	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	f094c9d6-47ab-4e33-84cd-aeae08aaf264	g.chr1:166826916A>G	ENST00000367874.4	-	8	989	c.896T>C	c.(895-897)cTt>cCt	p.L299P	TADA1_ENST00000467021.1_5'UTR	NM_053053.3	NP_444281.1	Q96BN2	TADA1_HUMAN	transcriptional adaptor 1	299					histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	11						TTCAATGTTAAGAGCATAGAC	0.438000													26	63					0	0	0.003330	0	0
CASKIN2	57513	broad.mit.edu	37	17	73500710	73500710	+	Silent	SNP	C	C	T			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	f094c9d6-47ab-4e33-84cd-aeae08aaf264	g.chr17:73500710C>T	ENST00000321617.3	-	12	1843	c.1257G>A	c.(1255-1257)ggG>ggA	p.G419G	CASKIN2_ENST00000433559.2_Silent_p.G337G	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	CASK interacting protein 2	419						cytoplasm				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			CAGAGCTCTGCCCGCTGCCGG	0.642000													3	22					0	0	0.004672	0	0
CUBN	8029	broad.mit.edu	37	10	17126460	17126460	+	Splice_Site	SNP	G	G	A			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	f094c9d6-47ab-4e33-84cd-aeae08aaf264	g.chr10:17126460G>A	ENST00000377833.4	-	17	2176	c.2110_splice	c.e17-1	p.S704_splice		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	704					cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ACGCAGATCCGCTAAGAACAG	0.502000													7	17					0	0	0.003080	0	0
DNAH10	196385	broad.mit.edu	37	12	124268652	124268652	+	Silent	SNP	C	C	T			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	f094c9d6-47ab-4e33-84cd-aeae08aaf264	g.chr12:124268652C>T	ENST00000409039.3	+	8	1000	c.975C>T	c.(973-975)acC>acT	p.T325T		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	325	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.T325T(1)|p.T143T(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CAGTGTTCACCGAGTTATTCA	0.488000													17	62					0	0	0.007413	0	0
TRIM17	51127	broad.mit.edu	37	1	228596742	228596742	+	Silent	SNP	T	T	C			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	f094c9d6-47ab-4e33-84cd-aeae08aaf264	g.chr1:228596742T>C	ENST00000456946.2	-	6	1389	c.1014A>G	c.(1012-1014)ctA>ctG	p.L338L	TRIM17_ENST00000366698.2_Intron|TRIM17_ENST00000366697.2_Intron|TRIM17_ENST00000295033.3_Intron|RP11-245P10.4_ENST00000436779.1_RNA	NM_001134855.1	NP_001128327.1	Q9Y577	TRI17_HUMAN	tripartite motif containing 17	0	B30.2/SPRY.				protein autoubiquitination	intracellular	protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	10		Prostate(94;0.0724)				GCACAGTGAATAGCCAGTGAC	0.572000													3	14					0	0	0.004672	0	0
GAS7	8522	broad.mit.edu	37	17	9923233	9923233	+	Silent	SNP	A	A	T			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	f094c9d6-47ab-4e33-84cd-aeae08aaf264	g.chr17:9923233A>T	ENST00000579158.1	-	1	86	c.21T>A	c.(19-21)ctT>ctA	p.L7L	GAS7_ENST00000437099.2_Intron|GAS7_ENST00000542249.1_Intron|GAS7_ENST00000585266.1_Intron|GAS7_ENST00000540214.1_Intron|GAS7_ENST00000396115.1_Intron|GAS7_ENST00000578655.1_Intron|GAS7_ENST00000323816.4_Intron|GAS7_ENST00000432992.2_Intron			O60861	GAS7_HUMAN	growth arrest-specific 7	0	SH3.				cell cycle arrest	cytoplasm	sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(7)|lung(18)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	39						GAAGAAAGAAAAGGTCACACC	0.527000			T	MLL	AML*								11	50					0	0	0.008291	0	0
SEC24D	9871	broad.mit.edu	37	4	119727067	119727067	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	f094c9d6-47ab-4e33-84cd-aeae08aaf264	g.chr4:119727067C>G	ENST00000379735.5	-	7	1118	c.847G>C	c.(847-849)Gtt>Ctt	p.V283L	SEC24D_ENST00000280551.6_Missense_Mutation_p.V282L|SEC24D_ENST00000419654.2_5'UTR	NM_014822.2	NP_055637.2	O94855	SC24D_HUMAN	SEC24 family member D	282	Pro-rich.				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						GTGGCATAAACTTGTCCTCCT	0.428000													19	52					0	0	0.014323	0	0
ZDHHC8	29801	broad.mit.edu	37	22	20127696	20127696	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	f094c9d6-47ab-4e33-84cd-aeae08aaf264	g.chr22:20127696T>A	ENST00000334554.7	+	5	757	c.616T>A	c.(616-618)Ttc>Atc	p.F206I	ZDHHC8_ENST00000320602.7_Intron|ZDHHC8_ENST00000468112.1_Intron|ZDHHC8_ENST00000405930.3_Missense_Mutation_p.F206I	NM_013373.3	NP_037505.1	Q9ULC8	ZDHC8_HUMAN	zinc finger, DHHC-type containing 8	206						cytoplasmic vesicle membrane|integral to membrane	acyltransferase activity|zinc ion binding			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	20	Colorectal(54;0.0993)					CCTCACTGGCTTCCATGTGGT	0.637000													6	32					0	0	0.001168	0	0
MBTD1	54799	broad.mit.edu	37	17	49270365	49270365	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	f094c9d6-47ab-4e33-84cd-aeae08aaf264	g.chr17:49270365G>C	ENST00000586178.1	-	15	1811	c.1468C>G	c.(1468-1470)Cac>Gac	p.H490D	MBTD1_ENST00000376381.2_3'UTR|MBTD1_ENST00000415868.1_Missense_Mutation_p.H490D	NM_017643.2	NP_060113.2	Q05BQ5	MBTD1_HUMAN	mbt domain containing 1	490					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(22;1.54e-08)			CGAAATCCGTGATTTGGAACA	0.378000													20	99					0	0	0.012319	0	0
LAMC1	3915	broad.mit.edu	37	1	183095288	183095288	+	Silent	SNP	G	G	A			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	f094c9d6-47ab-4e33-84cd-aeae08aaf264	g.chr1:183095288G>A	ENST00000258341.4	+	16	3092	c.2835G>A	c.(2833-2835)ggG>ggA	p.G945G	LAMC1_ENST00000466964.1_3'UTR	NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	945	Laminin EGF-like 10.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CCACCAATGGGCAGTGTGACA	0.507000													14	41					0	0	0.003163	0	0
ACTN3	89	broad.mit.edu	37	11	66330375	66330375	+	RNA	SNP	G	G	C			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	f094c9d6-47ab-4e33-84cd-aeae08aaf264	g.chr11:66330375G>C	ENST00000502692.1	+	0	2742				ACTN3_ENST00000513398.1_RNA	NM_001258371.1	NP_001245300.1	Q08043	ACTN3_HUMAN	actinin, alpha 3 (gene/pseudogene)						focal adhesion assembly|muscle filament sliding|regulation of apoptosis	actin filament|cytosol|focal adhesion|pseudopodium	actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)	10						AGCCGAGACTGACACGACTGA	0.597000													5	161					0	0	0.000602	0	0
RBAK	57786	broad.mit.edu	37	7	5103363	5103363	+	Silent	SNP	A	A	G			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	f094c9d6-47ab-4e33-84cd-aeae08aaf264	g.chr7:5103363A>G	ENST00000396912.1	+	5	795	c.276A>G	c.(274-276)caA>caG	p.Q92Q	RBAK_ENST00000407184.1_Silent_p.Q92Q|RBAK_ENST00000353796.3_Silent_p.Q92Q|RBAK_ENST00000396904.2_Intron	NM_021163.3	NP_066986.1	Q9NYW8	RBAK_HUMAN	RB-associated KRAB zinc finger	92					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	10		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)		AGAGAATCCAAGAAAACGAAG	0.353000													4	20					0	0	0.009096	0	0
PRL	5617	broad.mit.edu	37	6	22290542	22290542	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	f094c9d6-47ab-4e33-84cd-aeae08aaf264	g.chr6:22290542G>T	ENST00000306482.1	-	4	871	c.353C>A	c.(352-354)tCc>tAc	p.S118Y	RP3-404K8.2_ENST00000561912.1_RNA	NM_000948.5|NM_001163558.2	NP_000939.1|NP_001157030.1	P01236	PRL_HUMAN	prolactin	118				S -> P (in Ref. 6; AAB70858).	cell proliferation|cell surface receptor linked signaling pathway|female pregnancy|lactation|positive regulation of JAK-STAT cascade|regulation of multicellular organism growth	cytosol|extracellular region	hormone activity|prolactin receptor binding			NS(1)|endometrium(2)|large_intestine(6)|lung(6)|prostate(1)	16	Ovarian(93;0.163)					CTCATTCCAGGATCGCAATAT	0.428000													4	48					0.000602214	0.000679919	0.000602	1	0
TRHDE	29953	broad.mit.edu	37	12	72863583	72863583	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	f094c9d6-47ab-4e33-84cd-aeae08aaf264	g.chr12:72863583G>T	ENST00000261180.4	+	4	1322	c.1226G>T	c.(1225-1227)tGg>tTg	p.W409L		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	409					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						ATGGAGAACTGGGGACTAAGT	0.378000													15	67					4.7546e-09	5.73832e-09	0.004007	1	0
DUPD1	338599	broad.mit.edu	37	10	76803647	76803647	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	f094c9d6-47ab-4e33-84cd-aeae08aaf264	g.chr10:76803647C>G	ENST00000338487.5	-	2	328	c.329G>C	c.(328-330)gGc>gCc	p.G110A		NM_001003892.1	NP_001003892.1	Q68J44	DUPD1_HUMAN	dual specificity phosphatase and pro isomerase domain containing 1	110	Tyrosine-protein phosphatase.					cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(2)|lung(5)|ovary(2)|urinary_tract(1)	11	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					GGCCTCCACGCCGTGGTACTG	0.637000													21	69					0	0	0.012319	0	0
METTL14	57721	broad.mit.edu	37	4	119621732	119621732	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	f094c9d6-47ab-4e33-84cd-aeae08aaf264	g.chr4:119621732G>C	ENST00000388822.4	+	8	840	c.673G>C	c.(673-675)Gca>Cca	p.A225P	METTL14_ENST00000506780.1_Missense_Mutation_p.A187P			Q9HCE5	MTL14_HUMAN	methyltransferase like 14	225						nucleus	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1)	16						TGATGAGATTGCAGCACCTCG	0.348000													8	51					0	0	0.006214	0	0
PHACTR4	65979	broad.mit.edu	37	1	28800237	28800237	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	f094c9d6-47ab-4e33-84cd-aeae08aaf264	g.chr1:28800237C>G	ENST00000373839.3	+	7	1256	c.995C>G	c.(994-996)tCg>tGg	p.S332W	PHACTR4_ENST00000373836.3_Missense_Mutation_p.S342W|PHACTR4_ENST00000493669.1_3'UTR	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4	332	Pro-rich.						actin binding|protein phosphatase inhibitor activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		TCTATGGGCTCGGAACTACTA	0.537000													35	122					0	0	0.004289	0	0
ZFHX4	79776	broad.mit.edu	37	8	77763207	77763207	+	Silent	SNP	G	G	C			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	f094c9d6-47ab-4e33-84cd-aeae08aaf264	g.chr8:77763207G>C	ENST00000521891.2	+	10	4498	c.4050G>C	c.(4048-4050)ccG>ccC	p.P1350P	ZFHX4_ENST00000518282.1_Silent_p.P1324P|ZFHX4_ENST00000050961.6_Silent_p.P1305P|ZFHX4_ENST00000455469.2_Silent_p.P1305P	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1305						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AGCAGAAACCGACTAAAGAAC	0.398000										HNSCC(33;0.089)			8	32					0	0	0.003080	0	0
ZNF154	7710	broad.mit.edu	37	19	58213526	58213526	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	f094c9d6-47ab-4e33-84cd-aeae08aaf264	g.chr19:58213526C>T	ENST00000512439.2	-	3	987	c.791G>A	c.(790-792)cGg>cAg	p.R264Q	AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000596085.1_Intron|ZNF154_ENST00000426889.1_Missense_Mutation_p.R264Q			Q13106	ZN154_HUMAN	zinc finger protein 154	264						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(7)|lung(3)	12		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		GTGAACTCCCCGATGTTGAAG	0.453000													23	90					0	0	0.012319	0	0
TGDS	23483	broad.mit.edu	37	13	95230316	95230316	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	f094c9d6-47ab-4e33-84cd-aeae08aaf264	g.chr13:95230316G>T	ENST00000261296.5	-	9	888	c.768C>A	c.(766-768)aaC>aaA	p.N256K		NM_014305.2	NP_055120.1	O95455	TGDS_HUMAN	TDP-glucose 4,6-dehydratase	256					cellular metabolic process		coenzyme binding|dTDP-glucose 4,6-dehydratase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8	all_neural(89;0.0684)|Medulloblastoma(90;0.163)					TGGTTCCGATGTTATAAATTT	0.358000													7	34					0.00198382	0.00218689	0.001984	1	0
CACNA1H	8912	broad.mit.edu	37	16	1260937	1260937	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	f094c9d6-47ab-4e33-84cd-aeae08aaf264	g.chr16:1260937G>A	ENST00000348261.5	+	21	4437	c.4189G>A	c.(4189-4191)Gtg>Atg	p.V1397M	CACNA1H_ENST00000358590.4_Missense_Mutation_p.V1397M|CACNA1H_ENST00000565831.1_Missense_Mutation_p.V1397M	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	1397					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	TGTTCTGCGCGTGCTGCGTCT	0.682000													39	141					0	0	0.008740	0	0
TNXB	7148	broad.mit.edu	37	6	32020730	32020730	+	Silent	SNP	C	C	T			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	f094c9d6-47ab-4e33-84cd-aeae08aaf264	g.chr6:32020730C>T	ENST00000375244.3	-	26	9033	c.8832G>A	c.(8830-8832)acG>acA	p.T2944T	TNXB_ENST00000375247.2_Silent_p.T2942T			P22105	TENX_HUMAN	tenascin XB	2989	Fibronectin type-III 21.				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						CCGGGGCCTCCGTGCTGGGTT	0.657000													14	100					0	0	0.004007	0	0
NUDT22	84304	broad.mit.edu	37	11	63994371	63994371	+	Missense_Mutation	SNP	G	G	T	rs143695088	by1000genomes	TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	f094c9d6-47ab-4e33-84cd-aeae08aaf264	g.chr11:63994371G>T	ENST00000279206.3	+	2	403	c.247G>T	c.(247-249)Ggc>Tgc	p.G83C	NUDT22_ENST00000441250.2_Missense_Mutation_p.G83C	NM_001128612.2|NM_032344.2	NP_001122084.1|NP_115720.1	Q9BRQ3	NUD22_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 22	83							hydrolase activity			breast(1)|endometrium(1)|large_intestine(2)|lung(4)	8						CCTGCGCCTGGGCCTTACTTC	0.662000													20	75					1.64113e-05	1.89883e-05	0.010504	1	0
TRBV3-1	28619	broad.mit.edu	37	7	142008732	142008732	+	RNA	SNP	A	A	C			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	f094c9d6-47ab-4e33-84cd-aeae08aaf264	g.chr7:142008732A>C	ENST00000390387.3	+	0	252																											GTTTAGCTACAATAATAAGGA	0.348000													8	90					0	0	0.004482	0	0
RIPPLY2	134701	broad.mit.edu	37	6	84563844	84563844	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	f094c9d6-47ab-4e33-84cd-aeae08aaf264	g.chr6:84563844C>T	ENST00000369689.1	+	3	354	c.203C>T	c.(202-204)gCc>gTc	p.A68V	RIPPLY2_ENST00000369687.1_Missense_Mutation_p.A10V	NM_001009994.1	NP_001009994.1	Q5TAB7	RIPP2_HUMAN	ripply transcriptional repressor 2	68					somite rostral/caudal axis specification	nucleus				large_intestine(2)|lung(4)|urinary_tract(1)	7						ATGACCGCAGCCTCAGGAAAG	0.587000													10	56					0	0	0.008291	0	0
HMMR	3161	broad.mit.edu	37	5	162900509	162900509	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	f094c9d6-47ab-4e33-84cd-aeae08aaf264	g.chr5:162900509T>G	ENST00000416990.2	+	9	1002	c.505T>G	c.(505-507)Tct>Gct	p.S169A	HMMR_ENST00000432118.2_Missense_Mutation_p.S197A|HMMR_ENST00000358715.3_Missense_Mutation_p.S283A|HMMR_ENST00000393915.4_Missense_Mutation_p.S284A|HMMR_ENST00000353866.3_Missense_Mutation_p.S268A			O75330	HMMR_HUMAN	hyaluronan-mediated motility receptor (RHAMM)	283						cell surface|cytoplasm	hyaluronic acid binding			cervix(1)|kidney(3)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	23	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)		TGTTATATTATCTAAACAAGT	0.289000													5	45					0	0	0.000602	0	0
PMEL	6490	broad.mit.edu	37	12	56351770	56351770	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	f094c9d6-47ab-4e33-84cd-aeae08aaf264	g.chr12:56351770G>A	ENST00000548747.1	-	5	1230	c.568C>T	c.(568-570)Cat>Tat	p.H190Y	PMEL_ENST00000539511.1_Missense_Mutation_p.H104Y|PMEL_ENST00000536427.1_Missense_Mutation_p.H190Y|PMEL_ENST00000548493.1_Missense_Mutation_p.H190Y|PMEL_ENST00000360714.4_Missense_Mutation_p.H190Y|PMEL_ENST00000548689.1_5'UTR|PMEL_ENST00000449260.2_Missense_Mutation_p.H190Y|PMEL_ENST00000550447.1_Intron|PMEL_ENST00000550464.1_Missense_Mutation_p.H104Y|PMEL_ENST00000552882.1_Missense_Mutation_p.H190Y			P40967	PMEL_HUMAN	premelanosome protein	190					melanin biosynthetic process|melanosome organization	endoplasmic reticulum membrane|extracellular region|Golgi apparatus|integral to membrane|melanosome|multivesicular body membrane|plasma membrane	protein binding			NS(1)|breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CCCCGGCGATGGTAGACAGTC	0.577000													13	71					0	0	0.002450	0	0
ATG4A	115201	broad.mit.edu	37	X	107393409	107393409	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	f094c9d6-47ab-4e33-84cd-aeae08aaf264	g.chrX:107393409A>G	ENST00000372232.3	+	10	1001	c.842A>G	c.(841-843)cAt>cGt	p.H281R	ATG4A_ENST00000545696.1_Missense_Mutation_p.H142R|COL4A6_ENST00000418180.1_Intron|ATG4A_ENST00000372254.3_Missense_Mutation_p.H257R|ATG4A_ENST00000489247.1_3'UTR|ATG4A_ENST00000345734.3_Missense_Mutation_p.H219R	NM_052936.3	NP_443168.2	Q8WYN0	ATG4A_HUMAN	autophagy related 4A, cysteine peptidase	281					autophagy|protein transport|proteolysis	cytoplasm	cysteine-type peptidase activity			endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)	11						TTGGACCCTCATACAACCCAG	0.493000													70	200					0	0	0.014410	0	0
MORC2	22880	broad.mit.edu	37	22	31333632	31333632	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	f094c9d6-47ab-4e33-84cd-aeae08aaf264	g.chr22:31333632G>A	ENST00000215862.4	-	16	2613	c.1250C>T	c.(1249-1251)cCa>cTa	p.P417L	MORC2_ENST00000397641.2_Missense_Mutation_p.P479L|MORC2_ENST00000469915.1_Intron	NM_014941.1	NP_055756.1	Q9Y6X9	MORC2_HUMAN	MORC family CW-type zinc finger 2	479							ATP binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	21						CTCACTGGATGGGGGCTGGTT	0.547000													10	58					0	0	0.006214	0	0
ERI1	90459	broad.mit.edu	37	8	8869134	8869134	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	f094c9d6-47ab-4e33-84cd-aeae08aaf264	g.chr8:8869134G>T	ENST00000523898.1	+	4	1049	c.370G>T	c.(370-372)Gac>Tac	p.D124Y	ERI1_ENST00000250263.7_Missense_Mutation_p.D124Y|ERI1_ENST00000519292.1_Missense_Mutation_p.D124Y			Q8IV48	ERI1_HUMAN	exoribonuclease 1	124					gene silencing by RNA|rRNA 3'-end processing	cytoplasm|histone pre-mRNA 3'end processing complex|nucleolus	3'-5' exonuclease activity|histone pre-mRNA stem-loop binding|metal ion binding|ribosome binding|rRNA binding			NS(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)	11					Adenosine monophosphate(DB00131)	CAATTTTGCTGACAGTTATTA	0.348000													17	30					1.02788e-11	1.26231e-11	0.004990	1	0
ANKFN1	162282	broad.mit.edu	37	17	54428211	54428211	+	Silent	SNP	C	C	T			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	f094c9d6-47ab-4e33-84cd-aeae08aaf264	g.chr17:54428211C>T	ENST00000566473.2	+	4	282	c.282C>T	c.(280-282)aaC>aaT	p.N94N	ANKFN1_ENST00000318698.2_Silent_p.N94N			Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	94										NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						CATCTCCCAACGCAGCCAAAC	0.448000													9	45					0	0	0.006214	0	0
WASF2	10163	broad.mit.edu	37	1	27736225	27736225	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	f094c9d6-47ab-4e33-84cd-aeae08aaf264	g.chr1:27736225T>A	ENST00000430629.2	-	8	1515	c.1300A>T	c.(1300-1302)Agc>Tgc	p.S434C	WASF2_ENST00000536657.1_Intron	NM_001201404.1|NM_006990.3	NP_001188333.1|NP_008921.1	Q9Y6W5	WASF2_HUMAN	WAS protein family, member 2	434					actin cytoskeleton organization|G-protein signaling, coupled to cAMP nucleotide second messenger	actin cytoskeleton|lamellipodium	actin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	18		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0446)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.7e-08)|COAD - Colon adenocarcinoma(152;2e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00139)|KIRC - Kidney renal clear cell carcinoma(1967;0.00204)|STAD - Stomach adenocarcinoma(196;0.00325)|READ - Rectum adenocarcinoma(331;0.0481)		CGGGCATCGCTCACGGCAGGC	0.577000													12	72					0	0	0.001855	0	0
AHNAK2	113146	broad.mit.edu	37	14	105409742	105409742	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	f094c9d6-47ab-4e33-84cd-aeae08aaf264	g.chr14:105409742G>T	ENST00000333244.5	-	7	12165	c.12046C>A	c.(12046-12048)Ctc>Atc	p.L4016I	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4016						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TGAACGCTGAGGTCAGTGGCC	0.657000													113	238					3.68091e-61	4.64259e-61	0.014410	1	0
CTNND2	1501	broad.mit.edu	37	5	11082866	11082866	+	Silent	SNP	G	G	A			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	f094c9d6-47ab-4e33-84cd-aeae08aaf264	g.chr5:11082866G>A	ENST00000304623.8	-	16	2919	c.2730C>T	c.(2728-2730)tgC>tgT	p.C910C	CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000511377.1_Silent_p.C819C|CTNND2_ENST00000458100.2_Silent_p.C477C|CTNND2_ENST00000359640.2_Silent_p.C852C|CTNND2_ENST00000503622.1_Silent_p.C573C	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	910					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	p.C910C(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						TGGCCACCGCGCACACCACAC	0.527000													20	77					0	0	0.010504	0	0
RRP12	23223	broad.mit.edu	37	10	99132919	99132919	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	f094c9d6-47ab-4e33-84cd-aeae08aaf264	g.chr10:99132919A>C	ENST00000370992.4	-	18	2176	c.2065T>G	c.(2065-2067)Ttt>Gtt	p.F689V	RRP12_ENST00000315563.6_Missense_Mutation_p.F589V|RRP12_ENST00000414986.1_Missense_Mutation_p.F628V|RRP12_ENST00000479481.1_5'UTR|RRP12_ENST00000536831.1_Missense_Mutation_p.F407V	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog (S. cerevisiae)	689						integral to membrane|nuclear membrane|nucleolus	protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		ATCGGCAGAAAGTTCTTGGCA	0.567000													4	74					0	0	0.009096	0	0
SIRPB1	10326	broad.mit.edu	37	20	1600540	1600540	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	f094c9d6-47ab-4e33-84cd-aeae08aaf264	g.chr20:1600540C>A	ENST00000381605.4	-	1	115	c.51G>T	c.(49-51)atG>atT	p.M17I	SIRPB1_ENST00000568365.1_Missense_Mutation_p.M17I|SIRPB1_ENST00000381603.3_Missense_Mutation_p.M17I|SIRPB1_ENST00000381596.1_5'UTR|RP4-576H24.4_ENST00000564763.1_Missense_Mutation_p.M17I|SIRPB1_ENST00000279477.7_Missense_Mutation_p.M17I	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	17					cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding			central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						GCAGTAGCGTCATCAGCAGGA	0.562000													7	62					1.12685e-05	1.31466e-05	0.004482	1	0
ZNF628	89887	broad.mit.edu	37	19	55995170	55995170	+	Silent	SNP	G	G	A			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	f094c9d6-47ab-4e33-84cd-aeae08aaf264	g.chr19:55995170G>A	ENST00000598519.1	+	3	3163	c.2610G>A	c.(2608-2610)gtG>gtA	p.V870V	ZNF628_ENST00000391718.2_Silent_p.V866V	NM_033113.2	NP_149104.3	Q5EBL2	ZN628_HUMAN	zinc finger protein 628	866						nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|lung(2)	7	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)		TCCAGCCCGTGGCCGGCCAGC	0.647000													6	42					0	0	0.001168	0	0
MAOB	4129	broad.mit.edu	37	X	43698134	43698134	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	f094c9d6-47ab-4e33-84cd-aeae08aaf264	g.chrX:43698134G>A	ENST00000378069.4	-	3	406	c.259C>T	c.(259-261)Cgt>Tgt	p.R87C	MAOB_ENST00000536181.1_Missense_Mutation_p.R71C|MAOB_ENST00000538942.1_Missense_Mutation_p.R71C|MAOB_ENST00000487544.1_5'UTR	NM_000898.4	NP_000889.3	P27338	AOFB_HUMAN	monoamine oxidase B	87					xenobiotic metabolic process	integral to membrane|mitochondrial outer membrane	electron carrier activity|primary amine oxidase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(2)|skin(5)	21					Amantadine(DB00915)|Bupropion(DB01156)|Carbidopa(DB00190)|Citalopram(DB00215)|Dopamine(DB00988)|Entacapone(DB00494)|Furazolidone(DB00614)|Ginkgo biloba(DB01381)|Ibuprofen(DB01050)|Imipramine(DB00458)|Iproniazid(DB04818)|Isocarboxazid(DB01247)|Levodopa(DB01235)|Maprotiline(DB00934)|Meclizine(DB00737)|Moclobemide(DB01171)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Rasagiline(DB01367)|Selegiline(DB01037)|Tranylcypromine(DB00752)	TGGATCAGACGCTCAACCTCA	0.433000													18	82					0	0	0.008871	0	0
MAGEA5	4104	broad.mit.edu	37	X	151283638	151283638	+	RNA	SNP	T	T	G			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	f094c9d6-47ab-4e33-84cd-aeae08aaf264	g.chrX:151283638T>G	ENST00000509345.2	-	0	698																											GCTCCTTGACTTAATACTTGA	0.512000													34	136					0	0	0.005524	0	0
ZKSCAN8	7745	broad.mit.edu	37	6	28116421	28116421	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	f094c9d6-47ab-4e33-84cd-aeae08aaf264	g.chr6:28116421G>T	ENST00000330236.6	+	2	420	c.236G>T	c.(235-237)tGg>tTg	p.W79L	ZKSCAN8_ENST00000457389.2_Missense_Mutation_p.W79L	NM_001278119.1|NM_001278121.1|NM_001278122.1|NM_006298.2	NP_001265048.1|NP_001265050.1|NP_001265051.1|NP_006289.2			zinc finger with KRAB and SCAN domains 8																		TGCCATCAGTGGCTGAGGCCA	0.562000													13	65					4.3838e-07	5.20112e-07	0.001855	1	0
ZWILCH	55055	broad.mit.edu	37	15	66828269	66828269	+	Splice_Site	SNP	A	A	T			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	f094c9d6-47ab-4e33-84cd-aeae08aaf264	g.chr15:66828269A>T	ENST00000307897.5	+	15	1721		c.e15-1		ZWILCH_ENST00000565627.1_Splice_Site|ZWILCH_ENST00000535141.2_Splice_Site|ZWILCH_ENST00000446801.2_Splice_Site	NM_017975.3	NP_060445.3	Q9H900	ZWILC_HUMAN	zwilch kinetochore protein						cell division|mitotic cell cycle checkpoint|mitotic prometaphase	condensed chromosome kinetochore|cytosol	protein binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(1)|lung(6)|ovary(1)	18						TTTTCATTCCAGGAATACTTC	0.343000													4	50					0	0	0.000602	0	0
TTN	7273	broad.mit.edu	37	2	179483053	179483053	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	f094c9d6-47ab-4e33-84cd-aeae08aaf264	g.chr2:179483053G>T	ENST00000589042.1	-	252	47356	c.47132C>A	c.(47131-47133)gCa>gAa	p.A15711E	TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.A14070E|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A6771E|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.A6646E|TTN_ENST00000342175.6_Missense_Mutation_p.A6838E|TTN_ENST00000342992.6_Missense_Mutation_p.A13143E|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	14070	Ig-like 98.						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)			ACAACTCTCTGCACGGTCTGT	0.463000													15	87					6.31663e-08	7.55836e-08	0.003163	1	0
TRIM51HP	440041	broad.mit.edu	37	11	55065365	55065365	+	RNA	SNP	A	A	G			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	f094c9d6-47ab-4e33-84cd-aeae08aaf264	g.chr11:55065365A>G	ENST00000526016.1	-	0	343					NR_038174.2																						ACTCAATGGGACAGTGTCTGT	0.468000													13	26					0	0	0.002450	0	0
KCTD2	23510	broad.mit.edu	37	17	73059132	73059132	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	f094c9d6-47ab-4e33-84cd-aeae08aaf264	g.chr17:73059132C>T	ENST00000322444.6	+	6	788	c.782C>T	c.(781-783)tCg>tTg	p.S261L	KCTD2_ENST00000581589.1_Missense_Mutation_p.S62L	NM_015353.1	NP_056168.1	Q14681	KCTD2_HUMAN	potassium channel tetramerization domain containing 2	261						voltage-gated potassium channel complex	voltage-gated potassium channel activity			kidney(1)|lung(2)	3	all_lung(278;0.226)					GAGAGAGGATCGCGGATGTAA	0.552000													4	21					0	0	0.009096	0	0
YIPF2	78992	broad.mit.edu	37	19	11038315	11038315	+	Silent	SNP	G	G	A			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	f094c9d6-47ab-4e33-84cd-aeae08aaf264	g.chr19:11038315G>A	ENST00000586748.1	-	4	442	c.270C>T	c.(268-270)gaC>gaT	p.D90D	YIPF2_ENST00000590329.1_Silent_p.D90D|YIPF2_ENST00000253031.2_Silent_p.D90D			Q9BWQ6	YIPF2_HUMAN	Yip1 domain family, member 2	90						integral to membrane|transport vesicle				cervix(1)|endometrium(1)|lung(3)|ovary(2)	7						CCTGTGAGGTGTCCACGTCAA	0.602000													7	40					0	0	0.004482	0	0
DYNC2H1	79659	broad.mit.edu	37	11	103022985	103022985	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	f094c9d6-47ab-4e33-84cd-aeae08aaf264	g.chr11:103022985G>T	ENST00000375735.2	+	21	3211	c.3067G>T	c.(3067-3069)Gaa>Taa	p.E1023*	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Nonsense_Mutation_p.E1023*	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	1023	Stem (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		GTTAATGATGGAAAGTCACCA	0.303000													6	45					0.00198382	0.00218689	0.001984	1	0
ABCG2	9429	broad.mit.edu	37	4	89052340	89052340	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	f094c9d6-47ab-4e33-84cd-aeae08aaf264	g.chr4:89052340G>T	ENST00000237612.3	-	5	949	c.404C>A	c.(403-405)aCg>aAg	p.T135K	ABCG2_ENST00000515655.1_Missense_Mutation_p.T135K	NM_004827.2	NP_004818.2	Q9UNQ0	ABCG2_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 2	135	ABC transporter.				cellular iron ion homeostasis|urate metabolic process	integral to membrane|plasma membrane	ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity			breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	Imatinib(DB00619)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nitrendipine(DB01054)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Topotecan(DB01030)	TTCTCTCACCGTCAGAGTGCC	0.378000													10	88					0.00621372	0.00674357	0.006214	1	0
SNHG12	85028	broad.mit.edu	37	1	28907393	28907393	+	RNA	SNP	A	A	G			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	f094c9d6-47ab-4e33-84cd-aeae08aaf264	g.chr1:28907393A>G	ENST00000488745.1	-	0	1013				SNHG12_ENST00000475441.1_RNA|SNHG12_ENST00000531126.1_RNA|SNHG12_ENST00000483436.1_RNA																							ATTTTGATAAAGGTCTCTGGC	0.463000													29	83					0	0	0.008361	0	0
MLLT4	4301	broad.mit.edu	37	6	168281147	168281147	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	f094c9d6-47ab-4e33-84cd-aeae08aaf264	g.chr6:168281147G>C	ENST00000366806.2	+	6	989	c.847G>C	c.(847-849)Gag>Cag	p.E283Q	MLLT4_ENST00000400822.3_Missense_Mutation_p.E282Q|MLLT4_ENST00000392108.3_Missense_Mutation_p.E283Q|MLLT4_ENST00000392112.1_Missense_Mutation_p.E282Q|MLLT4_ENST00000351017.4_Missense_Mutation_p.E283Q|MLLT4_ENST00000447894.2_Missense_Mutation_p.E283Q|MLLT4_ENST00000344191.4_Missense_Mutation_p.E283Q			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	283	Ras-associating 2.				adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		TGAAGCTTTAGAGAAGTATGG	0.383000			T	MLL	AL								16	157					0	0	0.003163	0	0
SVEP1	79987	broad.mit.edu	37	9	113233781	113233781	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	f094c9d6-47ab-4e33-84cd-aeae08aaf264	g.chr9:113233781T>C	ENST00000401783.2	-	16	3197	c.2861A>G	c.(2860-2862)aAa>aGa	p.K954R	SVEP1_ENST00000302728.8_Missense_Mutation_p.K954R|SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000374469.1_Missense_Mutation_p.K931R	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	954					cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GAGAGTCCTTTTCAGTTTATT	0.403000													3	40					0	0	0.004672	0	0
FRMD4A	55691	broad.mit.edu	37	10	13698719	13698719	+	Missense_Mutation	SNP	G	G	A	rs143274194		TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	f094c9d6-47ab-4e33-84cd-aeae08aaf264	g.chr10:13698719G>A	ENST00000357447.2	-	22	3238	c.2870C>T	c.(2869-2871)tCg>tTg	p.S957L	FRMD4A_ENST00000358621.4_Missense_Mutation_p.S942L|FRMD4A_ENST00000378503.1_Missense_Mutation_p.S957L	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	957	Ser-rich.					cytoplasm|cytoskeleton	binding			breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						GCTGTACTGCGAGCCGCTGTC	0.667000													4	37					0	0	0.009096	0	0
ZDHHC5	25921	broad.mit.edu	37	11	57466839	57466839	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	f094c9d6-47ab-4e33-84cd-aeae08aaf264	g.chr11:57466839C>T	ENST00000287169.3	+	11	3293	c.1931C>T	c.(1930-1932)cCt>cTt	p.P644L	ZDHHC5_ENST00000527985.1_Missense_Mutation_p.P591L	NM_015457.2	NP_056272.2	Q9C0B5	ZDHC5_HUMAN	zinc finger, DHHC-type containing 5	644						integral to membrane	acyltransferase activity|zinc ion binding			endometrium(6)|kidney(3)|large_intestine(3)|lung(5)|skin(1)	18						AAAGCCCAACCTGGTGTCTCT	0.527000													22	66					0	0	0.014323	0	0
MMP3	4314	broad.mit.edu	37	11	102709884	102709884	+	Silent	SNP	G	G	A			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	f094c9d6-47ab-4e33-84cd-aeae08aaf264	g.chr11:102709884G>A	ENST00000299855.5	-	7	1282	c.1026C>T	c.(1024-1026)gcC>gcT	p.A342A		NM_002422.3	NP_002413.1	P08254	MMP3_HUMAN	matrix metallopeptidase 3 (stromelysin 1, progelatinase)	342	Hemopexin-like 2.				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.A342A(1)		endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0142)	Marimastat(DB00786)|Simvastatin(DB00641)	CTTCATATGCGGCATCCACGC	0.378000													21	59					0	0	0.002780	0	0
EMC9	51016	broad.mit.edu	37	14	24610485	24610485	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	f094c9d6-47ab-4e33-84cd-aeae08aaf264	g.chr14:24610485G>C	ENST00000419198.2	-	1	309	c.29C>G	c.(28-30)gCc>gGc	p.A10G	EMC9_ENST00000560403.1_Intron|EMC9_ENST00000216799.4_Missense_Mutation_p.A10G|EMC9_ENST00000558200.1_5'UTR					ER membrane protein complex subunit 9																		CTTCACGTAGGCCAGGGCCGA	0.657000											OREG0022618	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	56	68					0	0	0.014410	0	0
NBN	4683	broad.mit.edu	37	8	90949281	90949281	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	f094c9d6-47ab-4e33-84cd-aeae08aaf264	g.chr8:90949281T>C	ENST00000265433.3	-	15	2361	c.2207A>G	c.(2206-2208)gAa>gGa	p.E736G	NBN_ENST00000409330.1_Missense_Mutation_p.E654G	NM_002485.4	NP_002476.2	O60934	NBN_HUMAN	nibrin	736					cell cycle arrest|DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance	Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm	protein N-terminus binding|transcription factor binding			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(11;0.0344)			AAGAGACTCTTCTTTTGCATG	0.299000								Homologous recombination					6	30					0	0	0.001168	0	0
ABCA5	23461	broad.mit.edu	37	17	67270205	67270205	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	f094c9d6-47ab-4e33-84cd-aeae08aaf264	g.chr17:67270205T>C	ENST00000392676.3	-	20	2723	c.2659A>G	c.(2659-2661)Aaa>Gaa	p.K887E	ABCA5_ENST00000392677.2_Missense_Mutation_p.K887E|ABCA5_ENST00000588877.1_Missense_Mutation_p.K887E			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	887					cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)					ACAGCATTTTTAAAAGAGTGA	0.323000													13	48					0	0	0.001855	0	0
LRFN4	78999	broad.mit.edu	37	11	66626406	66626406	+	Silent	SNP	C	C	T			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	f094c9d6-47ab-4e33-84cd-aeae08aaf264	g.chr11:66626406C>T	ENST00000309602.4	+	1	1434	c.1191C>T	c.(1189-1191)gcC>gcT	p.A397A	PC_ENST00000393960.1_Intron|LRFN4_ENST00000393952.3_Intron|PC_ENST00000393958.2_Intron|PC_ENST00000393955.2_Intron	NM_024036.4	NP_076941.2	Q6PJG9	LRFN4_HUMAN	leucine rich repeat and fibronectin type III domain containing 4	397						integral to membrane				breast(1)|lung(1)|prostate(1)	3						GCACTGCTGCCGAGGGTGAGG	0.731000													5	57					0	0	0.000602	0	0
HLA-DMB	3109	broad.mit.edu	37	6	32906579	32906579	+	Silent	SNP	C	C	T			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	f094c9d6-47ab-4e33-84cd-aeae08aaf264	g.chr6:32906579C>T	ENST00000416244.2	-	2	413	c.219G>A	c.(217-219)gcG>gcA	p.A73A	XXbac-BPG181M17.5_ENST00000429234.1_Silent_p.A105A|HLA-DMB_ENST00000418107.2_Silent_p.A73A			P28068	DMB_HUMAN	major histocompatibility complex, class II, DM beta	73	Beta-1.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	integral to membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex		p.A73A(2)		breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						AGAGGACATTCGCCAAGCTAT	0.527000													17	96					0	0	0.004007	0	0
CHI3L2	1117	broad.mit.edu	37	1	111778261	111778261	+	Splice_Site	SNP	G	G	T			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	f094c9d6-47ab-4e33-84cd-aeae08aaf264	g.chr1:111778261G>T	ENST00000445067.2	+	8	1252	c.480_splice	c.e8-1	p.E161_splice	CHI3L2_ENST00000466741.1_Splice_Site_p.E82_splice|CHI3L2_ENST00000369748.4_Splice_Site_p.E161_splice|CHI3L2_ENST00000369744.2_Splice_Site_p.E151_splice|CHI3L2_ENST00000524472.1_Splice_Site_p.E82_splice			Q15782	CH3L2_HUMAN	chitinase 3-like 2	161					chitin catabolic process	extracellular space	cation binding|chitinase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|prostate(1)	19		all_cancers(81;1.89e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359)		Lung(183;0.0171)|Colorectal(144;0.0387)|all cancers(265;0.0464)|LUSC - Lung squamous cell carcinoma(189;0.0872)|Epithelial(280;0.0994)|COAD - Colon adenocarcinoma(174;0.141)		TTTTTCCTAGGAGTTAGCAGA	0.448000													28	79					2.44723e-14	3.05904e-14	0.004656	1	0
SAMD9L	219285	broad.mit.edu	37	7	92762824	92762824	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	f094c9d6-47ab-4e33-84cd-aeae08aaf264	g.chr7:92762824C>T	ENST00000318238.4	-	5	3677	c.2461G>A	c.(2461-2463)Gtt>Att	p.V821I	SAMD9L_ENST00000437805.1_Missense_Mutation_p.V821I|SAMD9L_ENST00000411955.1_Missense_Mutation_p.V821I	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	821										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			TCTGCTAAAACGGAATGGATG	0.383000													20	52					0	0	0.007413	0	0
LRGUK	136332	broad.mit.edu	37	7	133886291	133886291	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	f094c9d6-47ab-4e33-84cd-aeae08aaf264	g.chr7:133886291G>C	ENST00000285928.2	+	15	1875	c.1806G>C	c.(1804-1806)ttG>ttC	p.L602F		NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain containing	602							ATP binding|kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						ACCTTGGATTGACTGAGGAAC	0.388000													7	48					0	0	0.004482	0	0
TMEM2	23670	broad.mit.edu	37	9	74364981	74364981	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	f094c9d6-47ab-4e33-84cd-aeae08aaf264	g.chr9:74364981T>C	ENST00000377044.4	-	2	848	c.309A>G	c.(307-309)atA>atG	p.I103M	TMEM2_ENST00000377066.5_Missense_Mutation_p.I103M	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	103						integral to membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		ATTTTGAGGATATTCCTAAAA	0.294000													6	29					0	0	0.001168	0	0
CCNB3	85417	broad.mit.edu	37	X	50052074	50052074	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	f094c9d6-47ab-4e33-84cd-aeae08aaf264	g.chrX:50052074C>G	ENST00000376042.1	+	6	1203	c.905C>G	c.(904-906)cCa>cGa	p.P302R	CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000276014.7_Missense_Mutation_p.P302R|CCNB3_ENST00000348603.2_Intron			Q8WWL7	CCNB3_HUMAN	cyclin B3	302					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding			breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					TTTAGGAAGCCACCAGTATTG	0.418000													7	73					0	0	0.001984	0	0
ARID1B	57492	broad.mit.edu	37	6	157525122	157525122	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	f094c9d6-47ab-4e33-84cd-aeae08aaf264	g.chr6:157525122C>G	ENST00000346085.5	+	19	5018	c.5017C>G	c.(5017-5019)Ctc>Gtc	p.L1673V	ARID1B_ENST00000367148.1_Missense_Mutation_p.L1713V|ARID1B_ENST00000350026.5_Missense_Mutation_p.L1660V|ARID1B_ENST00000275248.4_Missense_Mutation_p.L1655V	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1660					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		TACTTTCAATCTCTCCCAGGT	0.428000													75	258					0	0	0.014410	0	0
TP53	7157	broad.mit.edu	37	17	7578235	7578235	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	f094c9d6-47ab-4e33-84cd-aeae08aaf264	g.chr17:7578235T>C	ENST00000420246.2	-	6	746	c.614A>G	c.(613-615)tAt>tGt	p.Y205C	TP53_ENST00000455263.2_Missense_Mutation_p.Y205C|TP53_ENST00000269305.4_Missense_Mutation_p.Y205C|TP53_ENST00000413465.2_Missense_Mutation_p.Y205C|TP53_ENST00000445888.2_Missense_Mutation_p.Y205C|TP53_ENST00000359597.4_Missense_Mutation_p.Y205C|TP53_ENST00000574684.1_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	205	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Y -> C (in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in sporadic cancers; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (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.Y205C(68)|p.Y205S(14)|p.Y205F(8)|p.0?(8)|p.Y112C(5)|p.?(5)|p.Y73C(5)|p.Y73S(1)|p.Y112S(1)|p.E204fs*39(1)|p.E204_N210delEYLDDRN(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)		GTCATCCAAATACTCCACACG	0.542000		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)			20	26					0	0	0.007413	0	0
SWAP70	23075	broad.mit.edu	37	11	9759763	9759763	+	Silent	SNP	C	C	T			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	f094c9d6-47ab-4e33-84cd-aeae08aaf264	g.chr11:9759763C>T	ENST00000318950.6	+	8	1187	c.1084C>T	c.(1084-1086)Ctg>Ttg	p.L362L	SWAP70_ENST00000447399.2_Silent_p.L304L	NM_015055.2	NP_055870.2	Q9UH65	SWP70_HUMAN	SWAP switching B-cell complex 70kDa subunit	362						cytoplasm|lamellipodium|nucleus|plasma membrane	calcium ion binding|DNA binding			NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)	11				all cancers(16;1.21e-10)|Epithelial(150;2.81e-09)|BRCA - Breast invasive adenocarcinoma(625;0.00649)		TGGCTAGAAACTGGAGGAAGC	0.448000													11	29					0	0	0.010729	0	0
XRRA1	143570	broad.mit.edu	37	11	74562186	74562186	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	f094c9d6-47ab-4e33-84cd-aeae08aaf264	g.chr11:74562186T>G	ENST00000340360.6	-	14	1634	c.1303A>C	c.(1303-1305)Aag>Cag	p.K435Q	XRRA1_ENST00000321448.8_Missense_Mutation_p.K160Q|XRRA1_ENST00000527087.1_Missense_Mutation_p.K348Q	NM_182969.2	NP_892014.1	Q6P2D8	XRRA1_HUMAN	X-ray radiation resistance associated 1	435					response to X-ray	cytoplasm|nucleus				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(3)	20						TTTACTATCTTCCTTCGAATT	0.498000													10	35					0	0	0.006214	0	0
VWA5A	4013	broad.mit.edu	37	11	123993667	123993667	+	Splice_Site	SNP	G	G	A			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	f094c9d6-47ab-4e33-84cd-aeae08aaf264	g.chr11:123993667G>A	ENST00000456829.2	+	8	1012	c.760_splice	c.e8-1	p.G254_splice	VWA5A_ENST00000392744.4_Splice_Site_p.G270_splice|VWA5A_ENST00000360334.4_Splice_Site_p.G254_splice|VWA5A_ENST00000449321.1_Splice_Site_p.G254_splice|VWA5A_ENST00000361352.5_Splice_Site_p.G254_splice|VWA5A_ENST00000392748.1_Splice_Site_p.G254_splice	NM_001130142.1	NP_001123614.1	O00534	VMA5A_HUMAN	von Willebrand factor A domain containing 5A	254										autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						TTCTGAACAGGTCATTTGATG	0.383000													4	38					0	0	0.009096	0	0
MC2R	4158	broad.mit.edu	37	18	13885391	13885391	+	Silent	SNP	G	G	A			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	f094c9d6-47ab-4e33-84cd-aeae08aaf264	g.chr18:13885391G>A	ENST00000327606.3	-	2	307	c.127C>T	c.(127-129)Ctg>Ttg	p.L43L		NM_000529.2	NP_000520.1	Q01718	ACTHR_HUMAN	melanocortin 2 receptor (adrenocorticotropic hormone)	43					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	corticotropin receptor activity|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30					Corticotropin(DB01285)|Cosyntropin(DB01284)	AGGACGATCAGATTCTCCAAA	0.428000													11	30					0	0	0.008291	0	0
RRN3P2	653390	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs151074589	by1000genomes	TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	f094c9d6-47ab-4e33-84cd-aeae08aaf264	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131																		p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328000													4	40					0	0	0.009096	0	0
ACBD3	64746	broad.mit.edu	37	1	226334387	226334387	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	f094c9d6-47ab-4e33-84cd-aeae08aaf264	g.chr1:226334387T>C	ENST00000366812.5	-	8	1565	c.1511A>G	c.(1510-1512)tAt>tGt	p.Y504C		NM_022735.3	NP_073572.2	Q9H3P7	GCP60_HUMAN	acyl-CoA binding domain containing 3	504	GOLD.				steroid biosynthetic process|transport	Golgi membrane|integral to membrane|mitochondrion	fatty-acyl-CoA binding|protein binding			breast(2)|endometrium(3)|large_intestine(5)|lung(7)|skin(1)|urinary_tract(2)	20	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.121)		CTTGAGGAGATAGACTCCTCT	0.453000													18	81					0	0	0.004990	0	0
LMTK2	22853	broad.mit.edu	37	7	97821898	97821898	+	Silent	SNP	C	C	T			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	f094c9d6-47ab-4e33-84cd-aeae08aaf264	g.chr7:97821898C>T	ENST00000297293.5	+	11	2414	c.2121C>T	c.(2119-2121)caC>caT	p.H707H		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	707					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)					ATCTTATGCACCAAGATAATT	0.363000													14	75					0	0	0.004007	0	0
TTN	7273	broad.mit.edu	37	2	179549086	179549086	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	f094c9d6-47ab-4e33-84cd-aeae08aaf264	g.chr2:179549086G>A	ENST00000589042.1	-	132	32917	c.32693C>T	c.(32692-32694)aCt>aTt	p.T10898I	TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.T10581I|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.T9654I|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10581	Glu-rich.|Pro-rich.						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)			CTCTTTTTTAGTTACAGCAAC	0.398000													4	36					0	0	0.009096	0	0
HIST1H3F	8968	broad.mit.edu	37	6	26250638	26250638	+	Silent	SNP	G	G	A			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	f094c9d6-47ab-4e33-84cd-aeae08aaf264	g.chr6:26250638G>A	ENST00000446824.2	-	1	197	c.196C>T	c.(196-198)Cta>Tta	p.L66L		NM_021018.2	NP_066298.1	P68431	H31_HUMAN	histone cluster 1, H3f	66					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			lung(6)|urinary_tract(1)	7						TGGAATGGTAGCTTGCGAATC	0.612000											OREG0017241	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	117					0	0	0.004007	0	0
NPAT	4863	broad.mit.edu	37	11	108044157	108044157	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	f094c9d6-47ab-4e33-84cd-aeae08aaf264	g.chr11:108044157T>A	ENST00000278612.8	-	13	1659	c.1554A>T	c.(1552-1554)gaA>gaT	p.E518D		NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	518					positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		CATTGTTAGCTTCACAACCAA	0.348000													19	51					0	0	0.008871	0	0
SLC9A1	6548	broad.mit.edu	37	1	27427055	27427055	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	f094c9d6-47ab-4e33-84cd-aeae08aaf264	g.chr1:27427055C>T	ENST00000263980.3	-	12	2766	c.2191G>A	c.(2191-2193)Gac>Aac	p.D731N	SLC9A1_ENST00000545949.1_Missense_Mutation_p.D392N	NM_003047.4	NP_003038.2	P19634	SL9A1_HUMAN	solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1	731					regulation of pH	integral to membrane	sodium:hydrogen antiporter activity			central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046)	Amiloride(DB00594)	TTCACCAGGTCCACAGACTCG	0.602000													61	246					0	0	0.014410	0	0
TMTC1	83857	broad.mit.edu	37	12	29659813	29659813	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	f094c9d6-47ab-4e33-84cd-aeae08aaf264	g.chr12:29659813C>T	ENST00000256062.5	-	18	2764	c.2291G>A	c.(2290-2292)cGa>cAa	p.R764Q	TMTC1_ENST00000551659.1_Missense_Mutation_p.R934Q|TMTC1_ENST00000319685.8_5'UTR|TMTC1_ENST00000552618.1_Missense_Mutation_p.R896Q|TMTC1_ENST00000539277.1_Missense_Mutation_p.R872Q	NM_175861.3	NP_787057.2	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	872						integral to membrane	binding	p.R764Q(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					TTCTTGTAATCGTTTTTCTAG	0.448000													15	143					0	0	0.004007	0	0
OBSCN	84033	broad.mit.edu	37	1	228431117	228431117	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	f094c9d6-47ab-4e33-84cd-aeae08aaf264	g.chr1:228431117G>A	ENST00000570156.2	+	11	3513	c.3439G>A	c.(3439-3441)Gag>Aag	p.E1147K	OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000422127.1_Missense_Mutation_p.E1055K|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.E1055K	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	83	Ig-like 11.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	p.E1055K(4)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CTACAGCTGCGAGGCCAGGGG	0.552000													8	35					0	0	0.004482	0	0
TLK1	9874	broad.mit.edu	37	2	171906348	171906348	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	f094c9d6-47ab-4e33-84cd-aeae08aaf264	g.chr2:171906348C>G	ENST00000442919.2	-	10	1427	c.812G>C	c.(811-813)gGt>gCt	p.G271A	TLK1_ENST00000434911.2_Missense_Mutation_p.G223A|TLK1_ENST00000521943.1_Missense_Mutation_p.G271A|TLK1_ENST00000360843.3_Missense_Mutation_p.G340A|TLK1_ENST00000431350.2_Missense_Mutation_p.G319A	NM_012290.4	NP_036422.3	Q9UKI8	TLK1_HUMAN	tousled-like kinase 1	319					cell cycle|chromatin modification|intracellular protein transport|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|liver(3)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						AAATGCAAAACCATCTGTCCA	0.348000													12	49					0	0	0.001855	0	0
NUP50	10762	broad.mit.edu	37	22	45574201	45574201	+	Silent	SNP	C	C	T			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	f094c9d6-47ab-4e33-84cd-aeae08aaf264	g.chr22:45574201C>T	ENST00000347635.3	+	5	889	c.423C>T	c.(421-423)tcC>tcT	p.S141S	NUP50_ENST00000425733.2_5'UTR|NUP50_ENST00000407019.2_Silent_p.S113S|NUP50_ENST00000486184.1_3'UTR|NUP50_ENST00000396096.2_Silent_p.S113S	NM_007172.3	NP_009103.2	Q9UKX7	NUP50_HUMAN	nucleoporin 50kDa	141	5 X 2 AA repeats of F-G.				carbohydrate metabolic process|glucose transport|intracellular transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore|nucleoplasm	protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9		Ovarian(80;0.00965)|all_neural(38;0.0244)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		AGCAGCCCTCCTCCTCTGGCC	0.483000													10	40					0	0	0.013537	0	0
MAP2K5	5607	broad.mit.edu	37	15	67995696	67995696	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	f094c9d6-47ab-4e33-84cd-aeae08aaf264	g.chr15:67995696C>A	ENST00000178640.5	+	16	1621	c.994C>A	c.(994-996)Cag>Aag	p.Q332K	MAP2K5_ENST00000354498.5_Missense_Mutation_p.Q296K|MAP2K5_ENST00000395476.2_Missense_Mutation_p.Q332K|MAP2K5_ENST00000340972.4_Missense_Mutation_p.Q142K	NM_145160.2	NP_660143.1	Q13163	MP2K5_HUMAN	mitogen-activated protein kinase kinase 5	332	Protein kinase.				nerve growth factor receptor signaling pathway		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|skin(1)	16						TTCAGGGGAGCAGTATGGAAT	0.423000													22	91					1.10923e-09	1.35037e-09	0.002780	1	0
FRG1BP	284802	broad.mit.edu	37	20	29625877	29625877	+	Missense_Mutation	SNP	G	G	A	rs7266938	by1000genomes	TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	f094c9d6-47ab-4e33-84cd-aeae08aaf264	g.chr20:29625877G>A	ENST00000278882.3	+	5	501	c.121G>A	c.(121-123)Gcc>Acc	p.A41T	FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T														p.A41T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GTACAGAATCGCCCTGAAATC	0.358000													4	51					0	0	0.009096	0	0
ZMYM4	9202	broad.mit.edu	37	1	35853113	35853113	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	f094c9d6-47ab-4e33-84cd-aeae08aaf264	g.chr1:35853113A>T	ENST00000314607.6	+	13	2251	c.2171A>T	c.(2170-2172)aAt>aTt	p.N724I	ZMYM4_ENST00000373297.2_Missense_Mutation_p.N635I	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN	zinc finger, MYM-type 4	724					multicellular organismal development		DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				AAAATAAATAATGTAATGGCA	0.318000													12	34					0	0	0.013537	0	0
LENG8	114823	broad.mit.edu	37	19	54965698	54965698	+	Silent	SNP	C	C	T			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	f094c9d6-47ab-4e33-84cd-aeae08aaf264	g.chr19:54965698C>T	ENST00000326764.5	+	6	995	c.516C>T	c.(514-516)ccC>ccT	p.P172P	LENG8_ENST00000376514.2_Intron	NM_052925.2	NP_443157.1	Q96PV6	LENG8_HUMAN	leukocyte receptor cluster (LRC) member 8	135							protein binding			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)		CCTCAAATCCCCCACATGGGG	0.687000													4	24					0	0	0.009096	0	0
ENPP4	22875	broad.mit.edu	37	6	46107985	46107985	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	f094c9d6-47ab-4e33-84cd-aeae08aaf264	g.chr6:46107985A>G	ENST00000321037.4	+	2	895	c.665A>G	c.(664-666)aAg>aGg	p.K222R		NM_014936.4	NP_055751.1	Q9Y6X5	ENPP4_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative)	222						integral to membrane	hydrolase activity			central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	18						CAAAGACTCAAGATGTTAGGG	0.408000													17	68					0	0	0.004990	0	0
PICALM	8301	broad.mit.edu	37	11	85712203	85712203	+	Splice_Site	SNP	T	T	A			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	f094c9d6-47ab-4e33-84cd-aeae08aaf264	g.chr11:85712203T>A	ENST00000526033.1	-	10	1210		c.e10-2		PICALM_ENST00000393346.3_Splice_Site|PICALM_ENST00000532317.1_Splice_Site|PICALM_ENST00000356360.5_Splice_Site|PICALM_ENST00000528398.1_Splice_Site	NM_001206946.1|NM_007166.3	NP_001193875.1|NP_009097.2	Q13492	PICAL_HUMAN	phosphatidylinositol binding clathrin assembly protein						clathrin coat assembly|endosome transport|negative regulation of receptor-mediated endocytosis|positive regulation of transcription, DNA-dependent|receptor internalization|regulation of protein localization	clathrin coat|clathrin-coated vesicle|coated pit|Golgi apparatus|nucleus|postsynaptic membrane|presynaptic membrane	1-phosphatidylinositol binding|clathrin heavy chain binding			endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19		Acute lymphoblastic leukemia(157;7.42e-07)|all_hematologic(158;0.00092)				GTAGTTGCCCTAGGATAATTG	0.443000			T	"""MLLT10, MLL"""	"""TALL, AML, """								21	75					0	0	0.012319	0	0
ZNF284	342909	broad.mit.edu	37	19	44590486	44590486	+	Silent	SNP	G	G	A			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	f094c9d6-47ab-4e33-84cd-aeae08aaf264	g.chr19:44590486G>A	ENST00000421176.3	+	5	1071	c.855G>A	c.(853-855)aaG>aaA	p.K285K	ZNF223_ENST00000591793.1_3'UTR	NM_001037813.2	NP_001032902.1	Q2VY69	ZN284_HUMAN	zinc finger protein 284	285					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0435)				CTGGGGAGAAGCCATTCAAAT	0.393000													23	72					0	0	0.003954	0	0
ZFAS1	441951	broad.mit.edu	37	20	47897282	47897282	+	RNA	SNP	A	A	G			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	f094c9d6-47ab-4e33-84cd-aeae08aaf264	g.chr20:47897282A>G	ENST00000450535.1	+	0	730				ZFAS1_ENST00000458653.1_RNA|ZFAS1_ENST00000326677.5_RNA|ZFAS1_ENST00000428008.1_RNA|ZFAS1_ENST00000371743.3_RNA|SNORD12_ENST00000391002.1_RNA|ZFAS1_ENST00000441722.1_RNA|ZFAS1_ENST00000417721.1_RNA																							TCTCTACACTATTGGCCAGTT	0.443000													21	78					0	0	0.003330	0	0
MAS1L	116511	broad.mit.edu	37	6	29455526	29455526	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	f094c9d6-47ab-4e33-84cd-aeae08aaf264	g.chr6:29455526G>A	ENST00000377127.3	-	1	212	c.154C>T	c.(154-156)Ctt>Ttt	p.L52F		NM_052967.1	NP_443199.1	P35410	MAS1L_HUMAN	MAS1 oncogene-like	52						cytoplasm|integral to membrane|nucleus|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						TCATTTTGAAGAAAGACGCCA	0.507000													20	56					0	0	0.010504	0	0
NEB	4703	broad.mit.edu	37	2	152375496	152375496	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	f094c9d6-47ab-4e33-84cd-aeae08aaf264	g.chr2:152375496T>G	ENST00000427231.2	-	155	22880	c.22678A>C	c.(22678-22680)Agc>Cgc	p.S7560R	NEB_ENST00000603639.1_Missense_Mutation_p.S7560R|NEB_ENST00000397345.3_Missense_Mutation_p.S7560R|NEB_ENST00000604864.1_Missense_Mutation_p.S7560R|NEB_ENST00000409198.1_Missense_Mutation_p.S5859R|NEB_ENST00000172853.10_Missense_Mutation_p.S5859R	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	5859					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GCAAGTTGGCTTGTATTCAGG	0.423000													5	32					0	0	0.000602	0	0
CRHBP	1393	broad.mit.edu	37	5	76251503	76251503	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	f094c9d6-47ab-4e33-84cd-aeae08aaf264	g.chr5:76251503G>A	ENST00000274368.4	+	4	781	c.359G>A	c.(358-360)gGg>gAg	p.G120E	CRHBP_ENST00000506501.1_Missense_Mutation_p.G120E	NM_001882.3	NP_001873.2	P24387	CRHBP_HUMAN	corticotropin releasing hormone binding protein	120					female pregnancy|learning or memory|signal transduction	soluble fraction		p.G120E(1)		kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	16		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-51)|Epithelial(54;8.79e-46)|all cancers(79;2.49e-41)		ATTCTCAAGGGGGAGAAGTTC	0.458000													14	52					0	0	0.004990	0	0
CNTNAP1	8506	broad.mit.edu	37	17	40842782	40842782	+	Silent	SNP	G	G	A			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	f094c9d6-47ab-4e33-84cd-aeae08aaf264	g.chr17:40842782G>A	ENST00000264638.4	+	13	2098	c.1881G>A	c.(1879-1881)cgG>cgA	p.R627R	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	627	Fibrinogen C-terminal.				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		CAGTTGTGCGGCATGACAGGC	0.587000													4	148					0	0	0.009096	0	0
WBP11P1	441818	broad.mit.edu	37	18	30093118	30093118	+	RNA	SNP	G	G	T			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	f094c9d6-47ab-4e33-84cd-aeae08aaf264	g.chr18:30093118G>T	ENST00000567636.1	+	0	1493					NR_003558.1																						CCTTTACCCTGACTTTTACCT	0.607000													3	19					0.004672	0.00511	0.004672	1	0
TFAM	7019	broad.mit.edu	37	10	60148561	60148561	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	f094c9d6-47ab-4e33-84cd-aeae08aaf264	g.chr10:60148561A>T	ENST00000487519.1	+	4	949	c.423A>T	c.(421-423)aaA>aaT	p.K141N	TFAM_ENST00000373899.3_3'UTR|TFAM_ENST00000373895.3_Missense_Mutation_p.K141N	NM_003201.1	NP_003192.1	Q00059	TFAM_HUMAN	transcription factor A, mitochondrial	141					DNA-dependent DNA replication|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase I promoter|transcription initiation from mitochondrial promoter	mitochondrial nucleoid	mitochondrial light strand promoter sense binding|protein binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(1)|lung(4)|prostate(1)	7						TAAAAAGGAAAGCTATGACAA	0.264000													19	69					0	0	0.008871	0	0
ZNF512	84450	broad.mit.edu	37	2	27822849	27822849	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	f094c9d6-47ab-4e33-84cd-aeae08aaf264	g.chr2:27822849G>A	ENST00000355467.4	+	5	469	c.386G>A	c.(385-387)cGg>cAg	p.R129Q	RP11-158I13.2_ENST00000505973.1_RNA|ZNF512_ENST00000494548.1_3'UTR|ZNF512_ENST00000416005.2_Intron|ZNF512_ENST00000379717.1_Missense_Mutation_p.R128Q|ZNF512_ENST00000413371.2_Missense_Mutation_p.R52Q|ZNF512_ENST00000556601.1_Missense_Mutation_p.G40S			Q96ME7	ZN512_HUMAN	zinc finger protein 512	129					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)					AGGAAGCAACGGCCTAAAACT	0.473000													6	18					0	0	0.004482	0	0
CEACAM18	729767	broad.mit.edu	37	19	51986513	51986513	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	f094c9d6-47ab-4e33-84cd-aeae08aaf264	g.chr19:51986513A>T	ENST00000396477.4	+	4	937	c.916A>T	c.(916-918)Atc>Ttc	p.I306F	CEACAM18_ENST00000451626.1_Missense_Mutation_p.I367F	NM_001278392.1	NP_001265321.1	A8MTB9	CEA18_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 18	367	Ig-like C2-type.					integral to membrane				breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1)	17		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		GACACAGCTGATCATGTACAT	0.582000													22	57					0	0	0.012319	0	0
EP400	57634	broad.mit.edu	37	12	132534871	132534871	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	f094c9d6-47ab-4e33-84cd-aeae08aaf264	g.chr12:132534871A>G	ENST00000333577.4	+	41	7421	c.7312A>G	c.(7312-7314)Aaa>Gaa	p.K2438E	EP400_ENST00000332482.4_Missense_Mutation_p.K2365E|EP400_ENST00000389562.2_Missense_Mutation_p.K2401E|EP400_ENST00000330386.6_Missense_Mutation_p.K2321E|EP400_ENST00000389561.2_Missense_Mutation_p.K2402E			Q96L91	EP400_HUMAN	E1A binding protein p400	2438					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		ATTGCAGAGTAAAAACAACCG	0.507000													16	71					0	0	0.007413	0	0
CNTN2	6900	broad.mit.edu	37	1	205034950	205034950	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	f094c9d6-47ab-4e33-84cd-aeae08aaf264	g.chr1:205034950G>A	ENST00000331830.4	+	14	2013	c.1729G>A	c.(1729-1731)Gcc>Acc	p.A577T		NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	577	Ig-like C2-type 6.				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CATCCTGAACGCCCAGCTGCG	0.642000													15	53					0	0	0.004007	0	0
OR4M2	390538	broad.mit.edu	37	15	22369305	22369305	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	f094c9d6-47ab-4e33-84cd-aeae08aaf264	g.chr15:22369305T>G	ENST00000332663.2	+	1	828	c.730T>G	c.(730-732)Tcc>Gcc	p.S244A	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	244					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		CACCTGCTATTCCCACATTAC	0.448000													19	136					0	0	0.003954	0	0
SEL1L2	80343	broad.mit.edu	37	20	13856702	13856702	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	f094c9d6-47ab-4e33-84cd-aeae08aaf264	g.chr20:13856702A>T	ENST00000284951.5	-	12	1160	c.1086T>A	c.(1084-1086)ttT>ttA	p.F362L	SEL1L2_ENST00000486903.1_5'UTR|SEL1L2_ENST00000378072.5_Missense_Mutation_p.F362L			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	362						integral to membrane	binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						CTGCCATGGAAAAGTACTTGA	0.393000													42	110					0	0	0.014410	0	0
TG	7038	broad.mit.edu	37	8	133925427	133925427	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	f094c9d6-47ab-4e33-84cd-aeae08aaf264	g.chr8:133925427C>A	ENST00000220616.4	+	20	4335	c.4295C>A	c.(4294-4296)aCc>aAc	p.T1432N	TG_ENST00000377869.1_Missense_Mutation_p.T1432N	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1432					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CACTTTGGCACCTCTCCCAGG	0.557000													15	57					2.23348e-06	2.62763e-06	0.004007	1	0
GPR112	139378	broad.mit.edu	37	X	135430046	135430046	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	f094c9d6-47ab-4e33-84cd-aeae08aaf264	g.chrX:135430046T>C	ENST00000394143.1	+	6	4472	c.4181T>C	c.(4180-4182)gTg>gCg	p.V1394A	GPR112_ENST00000370652.1_Missense_Mutation_p.V1394A|GPR112_ENST00000412101.1_Missense_Mutation_p.V1189A|GPR112_ENST00000287534.4_Missense_Mutation_p.V1331A|GPR112_ENST00000394141.1_Missense_Mutation_p.V1189A	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1394					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CCCAGGACTGTGGAAATGATA	0.453000													49	175					0	0	0.014410	0	0
XIRP2	129446	broad.mit.edu	37	2	168106357	168106357	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	f094c9d6-47ab-4e33-84cd-aeae08aaf264	g.chr2:168106357G>A	ENST00000409195.1	+	9	8544	c.8455G>A	c.(8455-8457)Gaa>Aaa	p.E2819K	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.E2597K|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.E2819K|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2644					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TCCAGGAAGTGAAGAAAAAAA	0.393000													8	32					0	0	0.003080	0	0
PRAMEF10	343071	broad.mit.edu	37	1	12954474	12954474	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	f094c9d6-47ab-4e33-84cd-aeae08aaf264	g.chr1:12954474T>A	ENST00000235347.4	-	3	888	c.809A>T	c.(808-810)cAg>cTg	p.Q270L		NM_001039361.3	NP_001034450.2	O60809	PRA10_HUMAN	PRAME family member 10	270										NS(2)|breast(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	12	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ATAAAGCATCTGGGGGTAGTA	0.473000													41	165					0	0	0.014410	0	0
MAK	4117	broad.mit.edu	37	6	10830857	10830857	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr6:10830857delG	ENST00000313243.2	-	2	407	c.25delC	c.(25-27)agfs	p.Q9fs	MAK_ENST00000536370.1_Frame_Shift_Del_p.Q9fs|MAK_ENST00000538030.1_Frame_Shift_Del_p.Q9fs|SYCP2L_ENST00000543878.1_Intron|RP11-637O19.3_ENST00000480294.1_Intron|MAK_ENST00000474039.1_Frame_Shift_Del_p.Q9fs|MAK_ENST00000354489.2_Frame_Shift_Del_p.Q9fs			P20794	MAK_HUMAN	male germ cell-associated kinase	9	Protein kinase.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|cyclin-dependent protein kinase activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)	22	Breast(50;0.107)|Ovarian(93;0.107)	all_hematologic(90;0.117)				TCCCCCAACTGTCTCATGGTT	0.438													17	86	---	---	---	---					
RP5-905H7.3	0	broad.mit.edu	37	7	62701951	62701952	+	RNA	INS	-	-	A			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr7:62701951_62701952insA	ENST00000451381.1	-	0	55																											CTTTTTTGGAGAAAAAATATAT	0.337													2	4	---	---	---	---					
TIGD5	84948	broad.mit.edu	37	8	144680434	144680436	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr8:144680434_144680436delGAG	ENST00000504548.2	+	1	361_363	c.361_363delGAG	c.(361-363)del	p.E123del	TIGD5_ENST00000321385.3_In_Frame_Del_p.E74del	NM_032862.4	NP_116251.4	E7EWS2	E7EWS2_HUMAN	tigger transposable element derived 5	123					regulation of transcription, DNA-dependent	chromosome, centromeric region	DNA binding			NS(1)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1)	7	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			GCTGGCCAACGAGGAGGAGATCG	0.704													10	36	---	---	---	---					
GTF3C4	9329	broad.mit.edu	37	9	135554721	135554722	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr9:135554721_135554722insT	ENST00000372146.4	+	2	2279_2280	c.1715_1716insT	c.(1714-1716)tttfs	p.F572fs		NM_012204.2	NP_036336.2	Q9UKN8	TF3C4_HUMAN	general transcription factor IIIC, polypeptide 4, 90kDa	572					transcription initiation from RNA polymerase III promoter	transcription factor TFIIIC complex	DNA binding|enzyme activator activity|histone acetyltransferase activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05)		GGAGTCACCTATTTTTGGCGTT	0.371													36	160	---	---	---	---					
CMTR2	55783	broad.mit.edu	37	16	71319701	71319705	+	Frame_Shift_Del	DEL	ATTAA	ATTAA	-			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr16:71319701_71319705delATTAA	ENST00000338099.5	-	3	455_459	c.119_123delTTAAT	c.(118-123)cfs	p.LN40fs	FTSJD1_ENST00000434935.2_Frame_Shift_Del_p.LN40fs			Q8IYT2	FTSJ1_HUMAN		40						integral to membrane	methyltransferase activity|nucleic acid binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GCCACTCATTATTAAGTGGCTTGCC	0.410													26	38	---	---	---	---					
AC008984.2	0	broad.mit.edu	37	19	54843564	54843565	+	RNA	INS	-	-	C	rs144647366	by1000genomes	TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr19:54843564_54843565insC	ENST00000507363.1	-	0	430																											CGGCTGCTCCTCCCCAGGCTGC	0.723													3	5	---	---	---	---					
BCRP7	100133163	broad.mit.edu	37	22	18843723	18843724	+	RNA	INS	-	-	A			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr22:18843723_18843724insA	ENST00000412938.1	+	0	2337																											AGGGGCACCCCACGGCCTGGAG	0.619													6	6	---	---	---	---					
TUBGCP6	85378	broad.mit.edu	37	22	50656424	50656444	+	In_Frame_Del	DEL	CCCCGCGGGCCCCCAGGGGGC	CCCCGCGGGCCCCCAGGGGGC	-	rs35381394	by1000genomes	TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	763bd061-65d2-4232-8ffe-2e27a7c6b4b6	g.chr22:50656424_50656444delCCCCGCGGGCCCCCAGGGGGC	ENST00000248846.5	-	24	5375_5395	c.5271_5291delGCCCCCTGGGGGCCCGCGGGG	c.(5269-5292)ggt>gg	p.GPPGGPRG1757del	TUBGCP6_ENST00000439308.2_3'UTR|TUBGCP6_ENST00000491449.1_5'UTR			Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	1757					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		GTGCTCTGCACCCCGCGGGCCCCCAGGGGGCCCCCAGGCCT	0.624													8	71	---	---	---	---					
MAK	4117	broad.mit.edu	37	6	10830857	10830857	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	f094c9d6-47ab-4e33-84cd-aeae08aaf264	g.chr6:10830857delG	ENST00000313243.2	-	2	407	c.25delC	c.(25-27)agfs	p.Q9fs	MAK_ENST00000474039.1_Frame_Shift_Del_p.Q9fs|MAK_ENST00000354489.2_Frame_Shift_Del_p.Q9fs|MAK_ENST00000536370.1_Frame_Shift_Del_p.Q9fs|MAK_ENST00000538030.1_Frame_Shift_Del_p.Q9fs|RP11-637O19.3_ENST00000480294.1_Intron|SYCP2L_ENST00000543878.1_Intron			P20794	MAK_HUMAN	male germ cell-associated kinase	9	Protein kinase.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|cyclin-dependent protein kinase activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)	22	Breast(50;0.107)|Ovarian(93;0.107)	all_hematologic(90;0.117)				TCCCCCAACTGTCTCATGGTT	0.438													17	86	---	---	---	---					
TIGD5	84948	broad.mit.edu	37	8	144680434	144680436	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	f094c9d6-47ab-4e33-84cd-aeae08aaf264	g.chr8:144680434_144680436delGAG	ENST00000321385.3	+	1	361_363	c.214_216delGAG	c.(214-216)del	p.E74del	TIGD5_ENST00000504548.2_In_Frame_Del_p.E123del			E7EWS2	E7EWS2_HUMAN	tigger transposable element derived 5	123					regulation of transcription, DNA-dependent	chromosome, centromeric region	DNA binding			NS(1)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1)	7	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			GCTGGCCAACGAGGAGGAGATCG	0.704													10	36	---	---	---	---					
GTF3C4	9329	broad.mit.edu	37	9	135554721	135554722	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	f094c9d6-47ab-4e33-84cd-aeae08aaf264	g.chr9:135554721_135554722insT	ENST00000372146.4	+	2	2279_2280	c.1715_1716insT	c.(1714-1716)tttfs	p.F572fs		NM_012204.2	NP_036336.2	Q9UKN8	TF3C4_HUMAN	general transcription factor IIIC, polypeptide 4, 90kDa	572					transcription initiation from RNA polymerase III promoter	transcription factor TFIIIC complex	DNA binding|enzyme activator activity|histone acetyltransferase activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05)		GGAGTCACCTATTTTTGGCGTT	0.371													36	160	---	---	---	---					
SKIDA1	387640	broad.mit.edu	37	10	21805466	21805467	+	In_Frame_Ins	INS	-	-	CCTCCT	rs138084841	by1000genomes	TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	f094c9d6-47ab-4e33-84cd-aeae08aaf264	g.chr10:21805466_21805467insCCTCCT	ENST00000449193.2	-	4	3537_3538	c.1285_1286insAGGAGG	c.(1285-1287)ggg>AGGAGGggg	p.428_429insRR	SKIDA1_ENST00000444772.3_In_Frame_Ins_p.349_350insRR	NM_207371.3	NP_997254.3			SKI/DACH domain containing 1									p.E428_G429insEE(2)									CCCGCTGCccccctcctcctcc	0.619													3	5	---	---	---	---					
UBQLN3	50613	broad.mit.edu	37	11	5529918	5529920	+	In_Frame_Del	DEL	TGG	TGG	-	rs2234451	byFrequency	TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	f094c9d6-47ab-4e33-84cd-aeae08aaf264	g.chr11:5529918_5529920delTGG	ENST00000311659.4	-	2	1016_1018	c.869_871delCCA	c.(868-873)agc>a	p.TS290del	HBG2_ENST00000380259.2_Intron	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	290			T -> S (in dbSNP:rs2234451).							NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAAGGTTGGCTGGTGGTGGTGGT	0.537													7	173	---	---	---	---					
TRAV9-2	28677	broad.mit.edu	37	14	22409533	22409539	+	RNA	DEL	CTCTCTC	CTCTCTC	-	rs57759840		TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	f094c9d6-47ab-4e33-84cd-aeae08aaf264	g.chr14:22409533_22409539delCTCTCTC	ENST00000390441.2	+	0	102																											ctctctctctctctctctTTTTTTTTT	0.415													4	5	---	---	---	---					
CMTR2	55783	broad.mit.edu	37	16	71319701	71319705	+	Frame_Shift_Del	DEL	ATTAA	ATTAA	-			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	f094c9d6-47ab-4e33-84cd-aeae08aaf264	g.chr16:71319701_71319705delATTAA	ENST00000338099.5	-	3	455_459	c.119_123delTTAAT	c.(118-123)cfs	p.LN40fs	FTSJD1_ENST00000434935.2_Frame_Shift_Del_p.LN40fs			Q8IYT2	FTSJ1_HUMAN		40						integral to membrane	methyltransferase activity|nucleic acid binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GCCACTCATTATTAAGTGGCTTGCC	0.410													26	38	---	---	---	---					
OR4F17	81099	broad.mit.edu	37	19	110747	110748	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	f094c9d6-47ab-4e33-84cd-aeae08aaf264	g.chr19:110747_110748insT	ENST00000585993.1	+	2	208_209	c.69_70insT	c.(67-72)ttttttfs	p.FF23fs	OR4F17_ENST00000318050.3_Frame_Shift_Ins_p.FF23fs			Q8NGA8	O4F17_HUMAN	olfactory receptor, family 4, subfamily F, member 17	23					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			lung(2)	2		all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TATTTATGTTGTTTTTTGTATT	0.411													49	878	---	---	---	---					
BCRP7	100133163	broad.mit.edu	37	22	18843723	18843724	+	RNA	INS	-	-	A			TCGA-CV-6934-01A-11D-1912-08	TCGA-CV-6934-11A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5abf385-0372-4faa-9558-8bf02381b68b	f094c9d6-47ab-4e33-84cd-aeae08aaf264	g.chr22:18843723_18843724insA	ENST00000412938.1	+	0	2337																											AGGGGCACCCCACGGCCTGGAG	0.619													6	6	---	---	---	---