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
FAT4	79633	broad.mit.edu	37	4	126355520	126355520	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6975-01A-11D-1945-08	TCGA-55-6975-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6fe3bda-63a6-4a6a-b6a5-41be3f00c9d1	e88fcc37-8fe9-4a8c-932a-89948527de22	g.chr4:126355520G>A	ENST00000394329.3	+	7	7152	c.7139G>A	c.(7138-7140)gGa>gAa	p.G2380E	FAT4_ENST00000335110.5_Missense_Mutation_p.G678E	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2380	Cadherin 23.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GCACCAACTGGAACAGATGTT	0.383000													5	55					0	0	0.001984	0	0
BACE2	25825	broad.mit.edu	37	21	42540362	42540362	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6975-01A-11D-1945-08	TCGA-55-6975-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6fe3bda-63a6-4a6a-b6a5-41be3f00c9d1	e88fcc37-8fe9-4a8c-932a-89948527de22	g.chr21:42540362G>A	ENST00000330333.6	+	1	635	c.172G>A	c.(172-174)Gac>Aac	p.D58N	BACE2_ENST00000347667.4_Missense_Mutation_p.D58N|BACE2_ENST00000328735.6_Missense_Mutation_p.D58N	NM_012105.3	NP_036237.2	Q9Y5Z0	BACE2_HUMAN	beta-site APP-cleaving enzyme 2	58					membrane protein ectodomain proteolysis|negative regulation of amyloid precursor protein biosynthetic process|peptide hormone processing	cell surface|endoplasmic reticulum|endosome|Golgi apparatus|integral to membrane	aspartic-type endopeptidase activity			endometrium(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14		Prostate(19;1.57e-07)|all_epithelial(19;0.0251)				GCGCCACGCCGACGGCTTGGC	0.771000													3	1					0	0	0.000248	0	0
KLHL24	54800	broad.mit.edu	37	3	183368813	183368813	+	Missense_Mutation	SNP	T	T	G			TCGA-55-6975-01A-11D-1945-08	TCGA-55-6975-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6fe3bda-63a6-4a6a-b6a5-41be3f00c9d1	e88fcc37-8fe9-4a8c-932a-89948527de22	g.chr3:183368813T>G	ENST00000454652.1	+	4	1055	c.669T>G	c.(667-669)atT>atG	p.I223M	KLHL24_ENST00000242810.6_Missense_Mutation_p.I223M|KLHL24_ENST00000476808.1_Missense_Mutation_p.I223M			Q6TFL4	KLH24_HUMAN	kelch-like family member 24	223	BACK.					axon|cytoplasm|perikaryon				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)			AACTTGTTATTGGTAAAGAGG	0.418000													8	82					0	0	0.003080	0	0
CD177	57126	broad.mit.edu	37	19	43866393	43866393	+	RNA	SNP	G	G	C			TCGA-55-6975-01A-11D-1945-08	TCGA-55-6975-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6fe3bda-63a6-4a6a-b6a5-41be3f00c9d1	e88fcc37-8fe9-4a8c-932a-89948527de22	g.chr19:43866393G>C	ENST00000378009.4	+	0	1396				CTC-490G23.4_ENST00000607109.1_RNA|CD177_ENST00000607517.1_RNA	NM_020406.2	NP_065139.2	Q8N6Q3	CD177_HUMAN	CD177 molecule						blood coagulation|leukocyte migration	anchored to membrane|plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5		Prostate(69;0.00682)				GGGGCTGAGGGCCTGGAGTCT	0.597000													16	30					0	0	0.003163	0	0
TTC12	54970	broad.mit.edu	37	11	113220806	113220806	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6975-01A-11D-1945-08	TCGA-55-6975-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6fe3bda-63a6-4a6a-b6a5-41be3f00c9d1	e88fcc37-8fe9-4a8c-932a-89948527de22	g.chr11:113220806C>T	ENST00000393020.1	+	14	1571	c.1166C>T	c.(1165-1167)gCg>gTg	p.A389V	TTC12_ENST00000529221.1_Missense_Mutation_p.A389V|TTC12_ENST00000314756.3_Missense_Mutation_p.A389V|TTC12_ENST00000478125.1_3'UTR|TTC12_ENST00000483239.2_Missense_Mutation_p.A395V			Q9H892	TTC12_HUMAN	tetratricopeptide repeat domain 12	389							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)		TTATTGGAAGCGCTGGTGTCA	0.413000													4	83					0	0	0.001168	0	0
PCDHA11	56138	broad.mit.edu	37	5	140249368	140249368	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6975-01A-11D-1945-08	TCGA-55-6975-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6fe3bda-63a6-4a6a-b6a5-41be3f00c9d1	e88fcc37-8fe9-4a8c-932a-89948527de22	g.chr5:140249368G>A	ENST00000398640.2	+	1	680	c.680G>A	c.(679-681)cGg>cAg	p.R227Q	PCDHA10_ENST00000307360.5_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron	NM_018902.3	NP_061725.1														breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCACCGTTCGGCTGTTAGTC	0.413000													3	11					0	0	0.004672	0	0
USH2A	7399	broad.mit.edu	37	1	216348731	216348731	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6975-01A-11D-1945-08	TCGA-55-6975-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6fe3bda-63a6-4a6a-b6a5-41be3f00c9d1	e88fcc37-8fe9-4a8c-932a-89948527de22	g.chr1:216348731G>T	ENST00000366943.2	-	21	4876	c.4490C>A	c.(4489-4491)tCt>tAt	p.S1497Y	USH2A_ENST00000366942.3_Missense_Mutation_p.S1497Y|USH2A_ENST00000307340.3_Missense_Mutation_p.S1497Y			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1497					maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ATATATAGGAGAGGGTCCATT	0.433000										HNSCC(13;0.011)			12	29					9.31168e-06	1.24796e-05	0.001855	1	0
TRIM51HP	440041	broad.mit.edu	37	11	55065638	55065638	+	RNA	SNP	C	C	A			TCGA-55-6975-01A-11D-1945-08	TCGA-55-6975-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6fe3bda-63a6-4a6a-b6a5-41be3f00c9d1	e88fcc37-8fe9-4a8c-932a-89948527de22	g.chr11:55065638C>A	ENST00000526016.1	-	0	70					NR_038174.2																						AGAAACAGGGCCGGCAAAAGC	0.493000													6	58					8.12818e-05	0.000103595	0.001984	1	0
JARID2	3720	broad.mit.edu	37	6	15497243	15497243	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6975-01A-11D-1945-08	TCGA-55-6975-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6fe3bda-63a6-4a6a-b6a5-41be3f00c9d1	e88fcc37-8fe9-4a8c-932a-89948527de22	g.chr6:15497243G>T	ENST00000341776.2	+	7	2031	c.1787G>T	c.(1786-1788)cGg>cTg	p.R596L	JARID2_ENST00000541660.1_Missense_Mutation_p.R558L|JARID2_ENST00000397311.3_Missense_Mutation_p.R424L	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	596	JmjN.				central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				CCGGACTGGCGGCCCGAGTGC	0.642000													6	13					0.00307968	0.00381294	0.003080	1	0
PKHD1L1	93035	broad.mit.edu	37	8	110457547	110457547	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6975-01A-11D-1945-08	TCGA-55-6975-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6fe3bda-63a6-4a6a-b6a5-41be3f00c9d1	e88fcc37-8fe9-4a8c-932a-89948527de22	g.chr8:110457547G>C	ENST00000378402.5	+	38	5553	c.5449G>C	c.(5449-5451)Gga>Cga	p.G1817R		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1817	IPT/TIG 10.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TGTTGTGGTGGGAAGTAAAGG	0.473000										HNSCC(38;0.096)			16	73					0	0	0.003163	0	0
ITIH5	80760	broad.mit.edu	37	10	7697622	7697622	+	Missense_Mutation	SNP	G	G	T	rs139355305		TCGA-55-6975-01A-11D-1945-08	TCGA-55-6975-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6fe3bda-63a6-4a6a-b6a5-41be3f00c9d1	e88fcc37-8fe9-4a8c-932a-89948527de22	g.chr10:7697622G>T	ENST00000256861.6	-	2	185	c.107C>A	c.(106-108)cCg>cAg	p.P36Q	ITIH5_ENST00000397145.2_Missense_Mutation_p.P36Q|ITIH5_ENST00000446830.2_5'UTR|ITIH5_ENST00000397146.2_Missense_Mutation_p.P36Q	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	36	VIT.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						GACTTGCCTCGGGACCCTGAG	0.403000													12	45					4.7546e-09	7.02385e-09	0.004007	1	0
MIDN	90007	broad.mit.edu	37	19	1255036	1255036	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6975-01A-11D-1945-08	TCGA-55-6975-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6fe3bda-63a6-4a6a-b6a5-41be3f00c9d1	e88fcc37-8fe9-4a8c-932a-89948527de22	g.chr19:1255036G>T	ENST00000300952.2	+	6	1347	c.832G>T	c.(832-834)Ggg>Tgg	p.G278W	MIDN_ENST00000591446.2_Missense_Mutation_p.G278W	NM_177401.4	NP_796375.3	Q504T8	MIDN_HUMAN	midnolin	278						nucleolus				NS(1)|endometrium(3)|kidney(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		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)		TCACGCCCCGGGGGTCTTCTC	0.632000													14	25					1.5739e-10	2.40714e-10	0.004007	1	0
INTS8	55656	broad.mit.edu	37	8	95837232	95837232	+	Nonsense_Mutation	SNP	T	T	G			TCGA-55-6975-01A-11D-1945-08	TCGA-55-6975-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6fe3bda-63a6-4a6a-b6a5-41be3f00c9d1	e88fcc37-8fe9-4a8c-932a-89948527de22	g.chr8:95837232T>G	ENST00000523731.1	+	2	375	c.242T>G	c.(241-243)tTa>tGa	p.L81*	INTS8_ENST00000447247.1_Nonsense_Mutation_p.L81*	NM_017864.2	NP_060334.2	Q75QN2	INT8_HUMAN	integrator complex subunit 8	81					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)					AATCGTATTTTAAAACTACTT	0.353000													13	37					0	0	0.001855	0	0
ROR2	4920	broad.mit.edu	37	9	94495619	94495619	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6975-01A-11D-1945-08	TCGA-55-6975-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6fe3bda-63a6-4a6a-b6a5-41be3f00c9d1	e88fcc37-8fe9-4a8c-932a-89948527de22	g.chr9:94495619G>T	ENST00000375708.3	-	6	920	c.722C>A	c.(721-723)gCg>gAg	p.A241E	ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Missense_Mutation_p.A101E	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	241	FZ.				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						CCGGGAGCGCGCGTCGCACAG	0.652000													9	16					2.17888e-05	2.8045e-05	0.006214	1	0
UBQLN1	29979	broad.mit.edu	37	9	86293406	86293406	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6975-01A-11D-1945-08	TCGA-55-6975-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6fe3bda-63a6-4a6a-b6a5-41be3f00c9d1	e88fcc37-8fe9-4a8c-932a-89948527de22	g.chr9:86293406G>A	ENST00000376395.4	-	5	1343	c.820C>T	c.(820-822)Cgc>Tgc	p.R274C	UBQLN1_ENST00000257468.7_Missense_Mutation_p.R274C	NM_013438.4|NM_053067.2	NP_038466.2|NP_444295.1	Q9UMX0	UBQL1_HUMAN	ubiquilin 1	274					apoptosis|regulation of protein ubiquitination|response to hypoxia	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm|proteasome complex	kinase binding			breast(4)|endometrium(2)|kidney(4)|large_intestine(6)|lung(10)|prostate(1)	27						GTGTACATGCGCCTTAAAGCA	0.493000													80	187					0	0	0.003610	0	0
SYNGAP1	8831	broad.mit.edu	37	6	33403305	33403305	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6975-01A-11D-1945-08	TCGA-55-6975-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6fe3bda-63a6-4a6a-b6a5-41be3f00c9d1	e88fcc37-8fe9-4a8c-932a-89948527de22	g.chr6:33403305C>T	ENST00000418600.2	+	7	778	c.677C>T	c.(676-678)tCa>tTa	p.S226L	SYNGAP1_ENST00000428982.2_Missense_Mutation_p.S167L|SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000293748.5_Missense_Mutation_p.S226L	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	226	PH.				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						ACAACTTCATCAGGAACAAAA	0.502000													11	219					0	0	0.004007	0	0
SMARCA4	6597	broad.mit.edu	37	19	11141546	11141546	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6975-01A-11D-1945-08	TCGA-55-6975-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6fe3bda-63a6-4a6a-b6a5-41be3f00c9d1	e88fcc37-8fe9-4a8c-932a-89948527de22	g.chr19:11141546G>A	ENST00000358026.2	+	25	3807	c.3523G>A	c.(3523-3525)Gac>Aac	p.D1175N	SMARCA4_ENST00000450717.3_Missense_Mutation_p.D1175N|SMARCA4_ENST00000541122.2_Missense_Mutation_p.D1175N|SMARCA4_ENST00000413806.3_Missense_Mutation_p.D1175N|SMARCA4_ENST00000590574.1_Missense_Mutation_p.D1175N|SMARCA4_ENST00000589677.1_Missense_Mutation_p.D1175N|SMARCA4_ENST00000444061.3_Missense_Mutation_p.D1175N|SMARCA4_ENST00000344626.4_Missense_Mutation_p.D1175N|SMARCA4_ENST00000429416.3_Missense_Mutation_p.D1175N	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1175	Helicase C-terminal.				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				GATCATTTTTGACAGCGACTG	0.617000			"""F, N, Mis"""		NSCLC								6	5					0	0	0.001168	0	0
UGT1A10	54575	broad.mit.edu	37	2	234545830	234545830	+	Missense_Mutation	SNP	A	A	T			TCGA-55-6975-01A-11D-1945-08	TCGA-55-6975-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6fe3bda-63a6-4a6a-b6a5-41be3f00c9d1	e88fcc37-8fe9-4a8c-932a-89948527de22	g.chr2:234545830A>T	ENST00000344644.5	+	1	731	c.662A>T	c.(661-663)cAg>cTg	p.Q221L	UGT1A10_ENST00000373445.1_Missense_Mutation_p.Q221L|UGT1A8_ENST00000373450.4_Intron	NM_019075.2	NP_061948.1														endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(2)|skin(3)	32		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;1.96e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000468)|Lung(119;0.00381)|LUSC - Lung squamous cell carcinoma(224;0.008)		TTATTTTGCCAGTATCTTTTT	0.433000													101	264					0	0	0.003610	0	0
MYPN	84665	broad.mit.edu	37	10	69934070	69934070	+	Missense_Mutation	SNP	A	A	T			TCGA-55-6975-01A-11D-1945-08	TCGA-55-6975-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6fe3bda-63a6-4a6a-b6a5-41be3f00c9d1	e88fcc37-8fe9-4a8c-932a-89948527de22	g.chr10:69934070A>T	ENST00000358913.5	+	11	2709	c.2221A>T	c.(2221-2223)Agc>Tgc	p.S741C	MYPN_ENST00000540630.1_Missense_Mutation_p.S741C|MYPN_ENST00000354393.2_Missense_Mutation_p.S466C	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	741						nucleus|sarcomere	actin binding			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						GGCCCCTTCCAGCTCTCCGGT	0.532000													23	107					0	0	0.004656	0	0
NFASC	23114	broad.mit.edu	37	1	204942475	204942475	+	Silent	SNP	A	A	C			TCGA-55-6975-01A-11D-1945-08	TCGA-55-6975-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6fe3bda-63a6-4a6a-b6a5-41be3f00c9d1	e88fcc37-8fe9-4a8c-932a-89948527de22	g.chr1:204942475A>C	ENST00000367172.4	+	12	1535	c.1207A>C	c.(1207-1209)Agg>Cgg	p.R403R	NFASC_ENST00000360049.4_Silent_p.R414R|NFASC_ENST00000513543.1_Silent_p.R414R|NFASC_ENST00000367169.4_Silent_p.R403R|NFASC_ENST00000339876.6_Silent_p.R403R|NFASC_ENST00000404076.1_Silent_p.R397R|NFASC_ENST00000539706.1_Silent_p.R414R|NFASC_ENST00000338586.6_Silent_p.R403R|NFASC_ENST00000401399.1_Silent_p.R403R|NFASC_ENST00000367170.4_Silent_p.R403R|NFASC_ENST00000403080.1_Silent_p.R403R|NFASC_ENST00000367171.4_Silent_p.R403R|NFASC_ENST00000338515.6_Silent_p.R403R|NFASC_ENST00000404907.1_Silent_p.R414R			O94856	NFASC_HUMAN	neurofascin	403	Ig-like C2-type 4.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			GATCAGCAGCAGGGCTGTGTA	0.587000													15	55					0	0	0.004007	0	0
PTH1R	5745	broad.mit.edu	37	3	46945070	46945070	+	Nonsense_Mutation	SNP	C	C	G			TCGA-55-6975-01A-11D-1945-08	TCGA-55-6975-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6fe3bda-63a6-4a6a-b6a5-41be3f00c9d1	e88fcc37-8fe9-4a8c-932a-89948527de22	g.chr3:46945070C>G	ENST00000449590.1	+	16	1909	c.1706C>G	c.(1705-1707)tCa>tGa	p.S569*	PTH1R_ENST00000418619.1_Nonsense_Mutation_p.S569*|PTH1R_ENST00000313049.5_Nonsense_Mutation_p.S569*|PTH1R_ENST00000430002.2_Nonsense_Mutation_p.S569*	NM_000316.2	NP_000307.1	Q03431	PTH1R_HUMAN	parathyroid hormone 1 receptor	569						cytoplasm|integral to plasma membrane|nucleus	parathyroid hormone receptor activity|peptide hormone binding|protein self-association			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(2)|stomach(1)|urinary_tract(2)	19						GGCTCCTGCTCAGGCCTGGAC	0.672000													15	95					0	0	0.004007	0	0
ZNF730	100129543	broad.mit.edu	37	19	23316948	23316948	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6975-01A-11D-1945-08	TCGA-55-6975-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6fe3bda-63a6-4a6a-b6a5-41be3f00c9d1	e88fcc37-8fe9-4a8c-932a-89948527de22	g.chr19:23316948G>A	ENST00000597761.2	+	2	269	c.70G>A	c.(70-72)Gaa>Aaa	p.E24K	ZNF730_ENST00000593635.1_5'UTR	NM_001277403.1	NP_001264332.1			zinc finger protein 730											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|pancreas(1)|stomach(2)|urinary_tract(1)	16						TCTGGACACCGAACAACAGAA	0.368000													6	39					0	0	0.001984	0	0
ANK3	288	broad.mit.edu	37	10	62039305	62039305	+	Missense_Mutation	SNP	A	A	C			TCGA-55-6975-01A-11D-1945-08	TCGA-55-6975-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6fe3bda-63a6-4a6a-b6a5-41be3f00c9d1	e88fcc37-8fe9-4a8c-932a-89948527de22	g.chr10:62039305A>C	ENST00000280772.1	-	2	398	c.207T>G	c.(205-207)atT>atG	p.I69M	ANK3_ENST00000503366.1_Missense_Mutation_p.I52M|ANK3_ENST00000373827.2_Missense_Mutation_p.I63M	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	69					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						CCTGATTGCAAATGTTGATGT	0.353000													19	95					0	0	0.001523	0	0
TRPC4	7223	broad.mit.edu	37	13	38320459	38320459	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6975-01A-11D-1945-08	TCGA-55-6975-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6fe3bda-63a6-4a6a-b6a5-41be3f00c9d1	e88fcc37-8fe9-4a8c-932a-89948527de22	g.chr13:38320459G>T	ENST00000379705.3	-	3	1369	c.512C>A	c.(511-513)cCc>cAc	p.P171H	TRPC4_ENST00000447043.1_Missense_Mutation_p.P171H|TRPC4_ENST00000426868.2_Missense_Mutation_p.P171H|TRPC4_ENST00000355779.2_Missense_Mutation_p.P171H|TRPC4_ENST00000379673.2_Missense_Mutation_p.P171H|TRPC4_ENST00000338947.5_Intron|TRPC4_ENST00000379679.1_Intron|TRPC4_ENST00000379681.3_Missense_Mutation_p.P171H|TRPC4_ENST00000358477.2_Missense_Mutation_p.P171H			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	171	Multimerization domain (By similarity).				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		GACCTCGTGGGGTCGAGGCAC	0.483000													15	85					7.93312e-07	1.08558e-06	0.002450	1	0
FCAR	2204	broad.mit.edu	37	19	55385751	55385751	+	Silent	SNP	C	C	T			TCGA-55-6975-01A-11D-1945-08	TCGA-55-6975-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6fe3bda-63a6-4a6a-b6a5-41be3f00c9d1	e88fcc37-8fe9-4a8c-932a-89948527de22	g.chr19:55385751C>T	ENST00000355524.3	+	1	16	c.6C>T	c.(4-6)gaC>gaT	p.D2D	FCAR_ENST00000391726.3_Silent_p.D2D|FCAR_ENST00000482092.2_3'UTR|FCAR_ENST00000469767.1_Silent_p.D2D|FCAR_ENST00000391724.3_Silent_p.D2D|FCAR_ENST00000391723.3_Silent_p.D2D|FCAR_ENST00000345937.4_Silent_p.D2D|FCAR_ENST00000391725.3_Silent_p.D2D|FCAR_ENST00000353758.4_Silent_p.D2D|FCAR_ENST00000359272.4_Silent_p.D2D	NM_002000.2	NP_001991.1	P24071	FCAR_HUMAN	Fc fragment of IgA, receptor for	2					immune response	extracellular region|integral to plasma membrane	IgA binding|receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2)	24				GBM - Glioblastoma multiforme(193;0.0443)		GCACGATGGACCCCAAACAGA	0.478000													17	52					0	0	0.007413	0	0
RAP2A	5911	broad.mit.edu	37	13	98116634	98116634	+	Missense_Mutation	SNP	A	A	T			TCGA-55-6975-01A-11D-1945-08	TCGA-55-6975-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6fe3bda-63a6-4a6a-b6a5-41be3f00c9d1	e88fcc37-8fe9-4a8c-932a-89948527de22	g.chr13:98116634A>T	ENST00000245304.4	+	2	739	c.490A>T	c.(490-492)Atg>Ttg	p.M164L		NM_021033.6	NP_066361.1	P10114	RAP2A_HUMAN	RAP2A, member of RAS oncogene family	164					actin cytoskeleton reorganization|cellular protein localization|establishment of protein localization|positive regulation of protein autophosphorylation|Rap protein signal transduction|regulation of dendrite morphogenesis|regulation of JNK cascade	recycling endosome membrane	GTP binding|GTPase activity|protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.166)			TGTGAGGCAGATGAACTATGC	0.473000													15	79					0	0	0.007413	0	0
IFT52	51098	broad.mit.edu	37	20	42265791	42265791	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6975-01A-11D-1945-08	TCGA-55-6975-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6fe3bda-63a6-4a6a-b6a5-41be3f00c9d1	e88fcc37-8fe9-4a8c-932a-89948527de22	g.chr20:42265791C>G	ENST00000373030.3	+	12	1148	c.1018C>G	c.(1018-1020)Cct>Gct	p.P340A	IFT52_ENST00000373039.4_Missense_Mutation_p.P340A	NM_016004.2	NP_057088.2	Q9Y366	IFT52_HUMAN	intraflagellar transport 52 homolog (Chlamydomonas)	340						intraflagellar transport particle B|microtubule-based flagellum	protein C-terminus binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			TTAGGTTTTTCCTCCCAGTTT	0.398000													12	71					0	0	0.000978	0	0
TADA2A	6871	broad.mit.edu	37	17	35836962	35836962	+	Missense_Mutation	SNP	A	A	G			TCGA-55-6975-01A-11D-1945-08	TCGA-55-6975-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6fe3bda-63a6-4a6a-b6a5-41be3f00c9d1	e88fcc37-8fe9-4a8c-932a-89948527de22	g.chr17:35836962A>G	ENST00000394395.2	+	16	1380	c.1207A>G	c.(1207-1209)Aac>Gac	p.N403D	TADA2A_ENST00000225396.6_Missense_Mutation_p.N403D	NM_001166105.1	NP_001159577.1	O75478	TAD2A_HUMAN	transcriptional adaptor 2A	403	SWIRM.				histone H3 acetylation|transcription from RNA polymerase II promoter	chromosome|PCAF complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|zinc ion binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)|skin(1)	13						TGCTCTATTGAACGAATGTAA	0.423000													42	116					0	0	0.002852	0	0
ALPK1	80216	broad.mit.edu	37	4	113353621	113353621	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6975-01A-11D-1945-08	TCGA-55-6975-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6fe3bda-63a6-4a6a-b6a5-41be3f00c9d1	e88fcc37-8fe9-4a8c-932a-89948527de22	g.chr4:113353621G>A	ENST00000458497.1	+	11	3197	c.2918G>A	c.(2917-2919)cGc>cAc	p.R973H	ALPK1_ENST00000504176.2_Missense_Mutation_p.R895H|ALPK1_ENST00000177648.9_Missense_Mutation_p.R973H	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	973							ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		CTTGAGGCTCGCACCTTGCAA	0.498000													6	113					0	0	0.001168	0	0
SUN2	25777	broad.mit.edu	37	22	39146305	39146305	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-6975-01A-11D-1945-08	TCGA-55-6975-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6fe3bda-63a6-4a6a-b6a5-41be3f00c9d1	e88fcc37-8fe9-4a8c-932a-89948527de22	g.chr22:39146305G>A	ENST00000405510.1	-	6	803	c.445C>T	c.(445-447)Cag>Tag	p.Q149*	SUN2_ENST00000216064.4_Nonsense_Mutation_p.Q149*|SUN2_ENST00000411587.2_Nonsense_Mutation_p.Q138*|SUN2_ENST00000406622.1_Nonsense_Mutation_p.Q149*|SUN2_ENST00000405018.1_Nonsense_Mutation_p.Q170*	NM_001199580.1	NP_001186509.1	Q9UH99	SUN2_HUMAN	Sad1 and UNC84 domain containing 2	149	Ser-rich.				centrosome localization|cytoskeletal anchoring at nuclear membrane|mitotic spindle organization|nuclear envelope organization|nuclear matrix anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	endosome membrane|integral to membrane|nuclear inner membrane|SUN-KASH complex	lamin binding|microtubule binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)|stomach(1)	15						CTGGAACTCTGCTGGTCCACA	0.617000													6	45					0	0	0.001168	0	0
ARHGEF6	9459	broad.mit.edu	37	X	135762897	135762897	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6975-01A-11D-1945-08	TCGA-55-6975-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6fe3bda-63a6-4a6a-b6a5-41be3f00c9d1	e88fcc37-8fe9-4a8c-932a-89948527de22	g.chrX:135762897G>A	ENST00000250617.6	-	15	2902	c.1697C>T	c.(1696-1698)gCt>gTt	p.A566V	ARHGEF6_ENST00000370620.1_Missense_Mutation_p.A412V|ARHGEF6_ENST00000370622.1_Missense_Mutation_p.A412V|ARHGEF6_ENST00000535227.1_Missense_Mutation_p.A439V	NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6	566					apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					TACAGAATGAGCACTACATGA	0.473000													5	40					0	0	0.001168	0	0
FGFBP1	9982	broad.mit.edu	37	4	15937797	15937797	+	Silent	SNP	G	G	C			TCGA-55-6975-01A-11D-1945-08	TCGA-55-6975-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6fe3bda-63a6-4a6a-b6a5-41be3f00c9d1	e88fcc37-8fe9-4a8c-932a-89948527de22	g.chr4:15937797G>C	ENST00000382333.1	-	3	753	c.459C>G	c.(457-459)tcC>tcG	p.S153S	FGFBP1_ENST00000259988.2_Silent_p.S153S	NM_005130.4	NP_005121.1	Q14512	FGFP1_HUMAN	fibroblast growth factor binding protein 1	153					cell-cell signaling|negative regulation of cell proliferation|signal transduction	extracellular space|plasma membrane	heparin binding			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(2)|prostate(2)|skin(1)	10						CAAATAGAGTGGAGCTGACTA	0.483000													12	55					0	0	0.000978	0	0
CCDC108	255101	broad.mit.edu	37	2	219892557	219892557	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6975-01A-11D-1945-08	TCGA-55-6975-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6fe3bda-63a6-4a6a-b6a5-41be3f00c9d1	e88fcc37-8fe9-4a8c-932a-89948527de22	g.chr2:219892557G>T	ENST00000341552.5	-	13	2109	c.2026C>A	c.(2026-2028)Ctg>Atg	p.L676M	CCDC108_ENST00000453220.1_Missense_Mutation_p.L676M|CCDC108_ENST00000441968.1_Missense_Mutation_p.L676M|CCDC108_ENST00000410037.1_Missense_Mutation_p.L611M|CCDC108_ENST00000409865.3_Missense_Mutation_p.L665M	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	676						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGGTTCATCAGGCACAGGGGT	0.617000													17	31					4.14922e-12	6.57803e-12	0.004007	1	0
ERC1	23085	broad.mit.edu	37	12	1346070	1346070	+	Splice_Site	SNP	G	G	A			TCGA-55-6975-01A-11D-1945-08	TCGA-55-6975-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6fe3bda-63a6-4a6a-b6a5-41be3f00c9d1	e88fcc37-8fe9-4a8c-932a-89948527de22	g.chr12:1346070G>A	ENST00000397203.2	+	13	2893	c.2487_splice	c.e13+1	p.Q829_splice	ERC1_ENST00000589028.1_Splice_Site_p.Q829_splice|ERC1_ENST00000546231.2_Splice_Site_p.Q833_splice|ERC1_ENST00000536573.2_3'UTR|ERC1_ENST00000543086.3_Splice_Site_p.Q801_splice|ERC1_ENST00000360905.4_Splice_Site_p.Q829_splice|ERC1_ENST00000355446.5_Splice_Site_p.Q829_splice			Q8IUD2	RB6I2_HUMAN	ELKS/RAB6-interacting/CAST family member 1	829					I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport	Golgi membrane|IkappaB kinase complex|presynaptic membrane	leucine zipper domain binding			NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			AGCAGCTACAGGTTAGAACAC	0.443000													5	25					0	0	0.001168	0	0
TBC1D10A	83874	broad.mit.edu	37	22	30691008	30691008	+	Silent	SNP	C	C	T			TCGA-55-6975-01A-11D-1945-08	TCGA-55-6975-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6fe3bda-63a6-4a6a-b6a5-41be3f00c9d1	e88fcc37-8fe9-4a8c-932a-89948527de22	g.chr22:30691008C>T	ENST00000215790.7	-	5	725	c.561G>A	c.(559-561)acG>acA	p.T187T	TBC1D10A_ENST00000403477.3_Silent_p.T194T|RP1-130H16.18_ENST00000447976.1_Silent_p.T61T|TBC1D10A_ENST00000403362.1_Silent_p.T99T	NM_031937.2	NP_114143.1	Q9BXI6	TB10A_HUMAN	TBC1 domain family, member 10A	187	Rab-GAP TBC.					intracellular|microvillus	guanyl-nucleotide exchange factor activity|PDZ domain binding|Rab GTPase activator activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						GCCGGTACAGCGTGTAGGCCT	0.652000													6	58					0	0	0.003080	0	0
ST7	7982	broad.mit.edu	37	7	116769845	116769845	+	Splice_Site	SNP	A	A	T			TCGA-55-6975-01A-11D-1945-08	TCGA-55-6975-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6fe3bda-63a6-4a6a-b6a5-41be3f00c9d1	e88fcc37-8fe9-4a8c-932a-89948527de22	g.chr7:116769845A>T	ENST00000265437.5	+	4	608		c.e4-1		ST7_ENST00000393449.1_Splice_Site|ST7_ENST00000393447.4_Splice_Site|ST7_ENST00000393443.1_Splice_Site|ST7-AS2_ENST00000442719.1_RNA|ST7_ENST00000393451.3_Splice_Site|ST7_ENST00000432298.1_Splice_Site|ST7_ENST00000422922.1_Splice_Site|ST7_ENST00000323984.3_Splice_Site|ST7_ENST00000487459.1_Splice_Site|ST7_ENST00000465133.1_Splice_Site|ST7-AS2_ENST00000432541.1_RNA|ST7_ENST00000393444.3_Splice_Site|ST7-AS2_ENST00000434993.1_RNA|ST7_ENST00000393446.2_Splice_Site	NM_021908.2	NP_068708.1	Q9NRC1	ST7_HUMAN	suppression of tumorigenicity 7							integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(1)	21	all_cancers(3;3.88e-07)|all_epithelial(6;3.42e-07)|Lung NSC(10;0.00072)|all_lung(10;0.000847)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		TCTTTGTTGCAGAATGCAAAG	0.373000													14	39					0	0	0.004007	0	0
KIAA1522	57648	broad.mit.edu	37	1	33236886	33236886	+	Silent	SNP	C	C	G			TCGA-55-6975-01A-11D-1945-08	TCGA-55-6975-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6fe3bda-63a6-4a6a-b6a5-41be3f00c9d1	e88fcc37-8fe9-4a8c-932a-89948527de22	g.chr1:33236886C>G	ENST00000401073.2	+	6	2176	c.2106C>G	c.(2104-2106)gcC>gcG	p.A702A	KIAA1522_ENST00000294521.3_Intron|KIAA1522_ENST00000373480.1_Silent_p.A643A|KIAA1522_ENST00000373481.3_Silent_p.A654A	NM_020888.2	NP_065939.2	Q9P206	K1522_HUMAN	KIAA1522	643	Pro-rich.									breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				CCACTGACGCCAGTCCTCAGT	0.632000													8	51					0	0	0.004482	0	0
ZNF521	25925	broad.mit.edu	37	18	22807111	22807111	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6975-01A-11D-1945-08	TCGA-55-6975-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6fe3bda-63a6-4a6a-b6a5-41be3f00c9d1	e88fcc37-8fe9-4a8c-932a-89948527de22	g.chr18:22807111G>T	ENST00000361524.3	-	4	919	c.771C>A	c.(769-771)ttC>ttA	p.F257L	ZNF521_ENST00000538137.2_Missense_Mutation_p.F257L|ZNF521_ENST00000584787.1_Missense_Mutation_p.F37L	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	257					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					GGTCTTCCGGGAAGTCAAAGC	0.557000			T	PAX5	ALL								19	59					1.56452e-12	2.51096e-12	0.007413	1	0
DSE	29940	broad.mit.edu	37	6	116720446	116720446	+	Silent	SNP	G	G	T			TCGA-55-6975-01A-11D-1945-08	TCGA-55-6975-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6fe3bda-63a6-4a6a-b6a5-41be3f00c9d1	e88fcc37-8fe9-4a8c-932a-89948527de22	g.chr6:116720446G>T	ENST00000331677.3	+	3	477	c.33G>T	c.(31-33)gtG>gtT	p.V11V	DSE_ENST00000540275.1_3'UTR|DSE_ENST00000537543.1_Silent_p.V30V|DSE_ENST00000359564.2_Silent_p.V11V|DSE_ENST00000452085.3_Silent_p.V11V			Q9UL01	DSE_HUMAN	dermatan sulfate epimerase	11					dermatan sulfate biosynthetic process	endoplasmic reticulum|Golgi apparatus|integral to membrane	chondroitin-glucuronate 5-epimerase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		CTCCCAGTGTGTTTTTCATAT	0.478000													16	64					1.67942e-08	2.45308e-08	0.006122	1	0
LRRC16A	55604	broad.mit.edu	37	6	25479352	25479352	+	Silent	SNP	C	C	T			TCGA-55-6975-01A-11D-1945-08	TCGA-55-6975-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6fe3bda-63a6-4a6a-b6a5-41be3f00c9d1	e88fcc37-8fe9-4a8c-932a-89948527de22	g.chr6:25479352C>T	ENST00000377969.3	+	12	1040	c.408C>T	c.(406-408)atC>atT	p.I136I	LRRC16A_ENST00000329474.6_Intron			Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	0					actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						ctaccaagatcaagagacaga	0.438000													50	230					0	0	0.003610	0	0
PTGIS	5740	broad.mit.edu	37	20	48164483	48164483	+	Missense_Mutation	SNP	C	C	T	rs144185728		TCGA-55-6975-01A-11D-1945-08	TCGA-55-6975-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6fe3bda-63a6-4a6a-b6a5-41be3f00c9d1	e88fcc37-8fe9-4a8c-932a-89948527de22	g.chr20:48164483C>T	ENST00000244043.4	-	3	301	c.272G>A	c.(271-273)cGc>cAc	p.R91H	PTGIS_ENST00000478971.1_Intron	NM_000961.3	NP_000952.1	Q16647	PTGIS_HUMAN	prostaglandin I2 (prostacyclin) synthase	91					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|prostaglandin-I synthase activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Phenylbutazone(DB00812)	GAGCCTGGTGCGAGGCTCCCA	0.557000													26	90					0	0	0.003330	0	0
ERCC3	2071	broad.mit.edu	37	2	128030447	128030447	+	Missense_Mutation	SNP	T	T	C			TCGA-55-6975-01A-11D-1945-08	TCGA-55-6975-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6fe3bda-63a6-4a6a-b6a5-41be3f00c9d1	e88fcc37-8fe9-4a8c-932a-89948527de22	g.chr2:128030447T>C	ENST00000493187.2	-	11	2092	c.1629A>G	c.(1627-1629)atA>atG	p.I543M	ERCC3_ENST00000285398.2_Missense_Mutation_p.I607M			P19447	ERCC3_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 3	607	Helicase C-terminal.				cell cycle checkpoint|DNA topological change|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding	p.I607I(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	31	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.073)		AAACCTTGGATATGAAGATGG	0.488000			"""Mis, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				5	32					0	0	0.000602	0	0
BRINP3	339479	broad.mit.edu	37	1	190068073	190068073	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6975-01A-11D-1945-08	TCGA-55-6975-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6fe3bda-63a6-4a6a-b6a5-41be3f00c9d1	e88fcc37-8fe9-4a8c-932a-89948527de22	g.chr1:190068073C>A	ENST00000367462.3	-	8	1607	c.1376G>T	c.(1375-1377)cGc>cTc	p.R459L	FAM5C_ENST00000484105.1_5'UTR|FAM5C_ENST00000534846.1_Missense_Mutation_p.R357L	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		459						extracellular region				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					GGTGCCGCAGCGGGTGCGGTT	0.617000													19	91					2.94398e-08	4.20569e-08	0.007413	1	0
MYH1	4619	broad.mit.edu	37	17	10398615	10398615	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6975-01A-11D-1945-08	TCGA-55-6975-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6fe3bda-63a6-4a6a-b6a5-41be3f00c9d1	e88fcc37-8fe9-4a8c-932a-89948527de22	g.chr17:10398615G>T	ENST00000226207.5	-	36	5283	c.5189C>A	c.(5188-5190)aCc>aAc	p.T1730N	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1730						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CTTCTTCTTGGTGTTGATCAG	0.418000													13	48					2.27111e-07	3.1409e-07	0.001368	1	0
OR4C13	283092	broad.mit.edu	37	11	49974207	49974207	+	Missense_Mutation	SNP	A	A	G			TCGA-55-6975-01A-11D-1945-08	TCGA-55-6975-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6fe3bda-63a6-4a6a-b6a5-41be3f00c9d1	e88fcc37-8fe9-4a8c-932a-89948527de22	g.chr11:49974207A>G	ENST00000555099.1	+	1	265	c.233A>G	c.(232-234)aAg>aGg	p.K78R		NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C, member 13	78					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						AATACCCCTAAGCTGATCACA	0.428000													20	166					0	0	0.008871	0	0
BCAS3	54828	broad.mit.edu	37	17	59155884	59155884	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6975-01A-11D-1945-08	TCGA-55-6975-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6fe3bda-63a6-4a6a-b6a5-41be3f00c9d1	e88fcc37-8fe9-4a8c-932a-89948527de22	g.chr17:59155884G>A	ENST00000589222.1	+	21	2389	c.2321G>A	c.(2320-2322)aGt>aAt	p.S774N	BCAS3_ENST00000390652.5_Missense_Mutation_p.S789N|BCAS3_ENST00000585744.1_Missense_Mutation_p.S560N|BCAS3_ENST00000407086.3_Missense_Mutation_p.S774N|BCAS3_ENST00000408905.3_Missense_Mutation_p.S774N|BCAS3_ENST00000588874.1_Missense_Mutation_p.S545N|BCAS3_ENST00000588462.1_Missense_Mutation_p.S789N			Q9H6U6	BCAS3_HUMAN	breast carcinoma amplified sequence 3	789						nucleus				NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			GATCTCAACAGTCTCAGGTAG	0.393000													6	15					0	0	0.001168	0	0
MAGEA10	4109	broad.mit.edu	37	X	151304025	151304025	+	Missense_Mutation	SNP	T	T	C			TCGA-55-6975-01A-11D-1945-08	TCGA-55-6975-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6fe3bda-63a6-4a6a-b6a5-41be3f00c9d1	e88fcc37-8fe9-4a8c-932a-89948527de22	g.chrX:151304025T>C	ENST00000370323.4	-	4	384	c.68A>G	c.(67-69)cAg>cGg	p.Q23R	MAGEA10_ENST00000244096.3_Missense_Mutation_p.Q23R|RP11-1007I13.4_ENST00000509345.2_RNA	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386.2	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	23										endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					CTCGAGGCCCTGTGTCTCACT	0.562000													3	56					0	0	0.000248	0	0
FAM71A	149647	broad.mit.edu	37	1	212799454	212799454	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6975-01A-11D-1945-08	TCGA-55-6975-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6fe3bda-63a6-4a6a-b6a5-41be3f00c9d1	e88fcc37-8fe9-4a8c-932a-89948527de22	g.chr1:212799454G>A	ENST00000294829.3	+	1	1666	c.1235G>A	c.(1234-1236)cGa>cAa	p.R412Q	RP11-338C15.5_ENST00000427949.1_RNA	NM_153606.3	NP_705834.2	Q8IYT1	FA71A_HUMAN	family with sequence similarity 71, member A	412										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)		GGAAGGGAGCGAACCCAGGCC	0.622000													17	39					0	0	0.004007	0	0
OR52E8	390079	broad.mit.edu	37	11	5878253	5878253	+	Missense_Mutation	SNP	A	A	G			TCGA-55-6975-01A-11D-1945-08	TCGA-55-6975-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6fe3bda-63a6-4a6a-b6a5-41be3f00c9d1	e88fcc37-8fe9-4a8c-932a-89948527de22	g.chr11:5878253A>G	ENST00000537935.1	-	1	711	c.680T>C	c.(679-681)cTg>cCg	p.L227P	TRIM5_ENST00000380027.1_Intron	NM_001005168.1	NP_001005168.1	Q6IFG1	O52E8_HUMAN	olfactory receptor, family 52, subfamily E, member 8	227					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GACAGCATACAGGATCCTGAC	0.453000													4	65					0	0	0.000248	0	0
GMCL1	64395	broad.mit.edu	37	2	70106039	70106039	+	Splice_Site	SNP	A	A	G			TCGA-55-6975-01A-11D-1945-08	TCGA-55-6975-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6fe3bda-63a6-4a6a-b6a5-41be3f00c9d1	e88fcc37-8fe9-4a8c-932a-89948527de22	g.chr2:70106039A>G	ENST00000282570.3	+	14	1703		c.e14-1			NM_178439.3	NP_848526.1	Q96IK5	GMCL1_HUMAN	germ cell-less, spermatogenesis associated 1						cell differentiation|multicellular organismal development|spermatogenesis	nuclear matrix				endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	15						TCTGTCTTATAGGAACAAGTG	0.338000													30	98					0	0	0.002096	0	0
TRIM13	10206	broad.mit.edu	37	13	50586540	50586540	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6975-01A-11D-1945-08	TCGA-55-6975-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6fe3bda-63a6-4a6a-b6a5-41be3f00c9d1	e88fcc37-8fe9-4a8c-932a-89948527de22	g.chr13:50586540G>T	ENST00000378182.3	+	2	1202	c.464G>T	c.(463-465)gGa>gTa	p.G155V	TRIM13_ENST00000478111.1_Intron|TRIM13_ENST00000457662.2_Missense_Mutation_p.G155V|TRIM13_ENST00000298772.5_Missense_Mutation_p.G158V|TRIM13_ENST00000420995.2_Missense_Mutation_p.G155V|TRIM13_ENST00000356017.4_Missense_Mutation_p.G158V	NM_001007278.1|NM_005798.3|NM_052811.2|NM_213590.1	NP_001007279.1|NP_005789.2|NP_434698.1|NP_998755.1	O60858	TRI13_HUMAN	tripartite motif containing 13	155					anatomical structure morphogenesis|ER-associated protein catabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination	cytoplasm|endoplasmic reticulum membrane|integral to membrane	protein binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(5)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	10		Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.53e-10)|COAD - Colon adenocarcinoma(199;0.205)		TGGCGTCGGGGAGATGCTCTT	0.443000													9	39					1.12685e-05	1.4797e-05	0.004482	1	0
TMEM175	84286	broad.mit.edu	37	4	947060	947060	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6975-01A-11D-1945-08	TCGA-55-6975-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6fe3bda-63a6-4a6a-b6a5-41be3f00c9d1	e88fcc37-8fe9-4a8c-932a-89948527de22	g.chr4:947060G>T	ENST00000264771.4	+	8	730	c.545G>T	c.(544-546)cGa>cTa	p.R182L	TMEM175_ENST00000508204.1_Missense_Mutation_p.R100L|TMEM175_ENST00000515740.1_Missense_Mutation_p.R66L|TMEM175_ENST00000504180.1_3'UTR	NM_032326.2	NP_115702.1	Q9BSA9	TM175_HUMAN	transmembrane protein 175	182						integral to membrane				NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3)	14			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			GCTCTGTACCGACGACACGTC	0.622000													7	43					2.0095e-06	2.72119e-06	0.001984	1	0
TBATA	219793	broad.mit.edu	37	10	72531140	72531140	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6975-01A-11D-1945-08	TCGA-55-6975-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6fe3bda-63a6-4a6a-b6a5-41be3f00c9d1	e88fcc37-8fe9-4a8c-932a-89948527de22	g.chr10:72531140C>T	ENST00000299290.1	-	11	1437	c.1048G>A	c.(1048-1050)Gag>Aag	p.E350K	TBATA_ENST00000394982.2_5'UTR	NM_152710.2	NP_689923.2			thymus, brain and testes associated																		CCTCAGCTCTCTGCCCTCGGC	0.547000													5	137					0	0	0.000602	0	0
LTB	4050	broad.mit.edu	37	6	31549372	31549372	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6975-01A-11D-1945-08	TCGA-55-6975-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6fe3bda-63a6-4a6a-b6a5-41be3f00c9d1	e88fcc37-8fe9-4a8c-932a-89948527de22	g.chr6:31549372C>T	ENST00000429299.2	-	3	251	c.244G>A	c.(244-246)Gat>Aat	p.D82N	LTB_ENST00000483972.1_5'UTR|LTB_ENST00000446745.2_Silent_p.Q66Q	NM_002341.1	NP_002332.1	Q06643	TNFC_HUMAN	lymphotoxin beta (TNF superfamily, member 3)	82					cell-cell signaling|immune response|positive regulation of interleukin-12 biosynthetic process|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	9					Infliximab(DB00065)|Simvastatin(DB00641)	GGGCTGAGATCTGTTTCTGGC	0.572000													17	98					0	0	0.006122	0	0
BAHCC1	57597	broad.mit.edu	37	17	79409867	79409867	+	Missense_Mutation	SNP	A	A	G			TCGA-55-6975-01A-11D-1945-08	TCGA-55-6975-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6fe3bda-63a6-4a6a-b6a5-41be3f00c9d1	e88fcc37-8fe9-4a8c-932a-89948527de22	g.chr17:79409867A>G	ENST00000307745.7	+	9	1492	c.1492A>G	c.(1492-1494)Acc>Gcc	p.T498A																								CGAGTTGCCCACCTCTTCACA	0.627000													7	21					0	0	0.006214	0	0
SGOL2	151246	broad.mit.edu	37	2	201434585	201434585	+	Missense_Mutation	SNP	A	A	T			TCGA-55-6975-01A-11D-1945-08	TCGA-55-6975-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6fe3bda-63a6-4a6a-b6a5-41be3f00c9d1	e88fcc37-8fe9-4a8c-932a-89948527de22	g.chr2:201434585A>T	ENST00000357799.4	+	6	771	c.673A>T	c.(673-675)Att>Ttt	p.I225F	SGOL2_ENST00000409203.3_Missense_Mutation_p.I225F	NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	225					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding			NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						TTCAGAACATATTTCTTCTAT	0.308000													15	83					0	0	0.004007	0	0
USH2A	7399	broad.mit.edu	37	1	215848451	215848451	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6975-01A-11D-1945-08	TCGA-55-6975-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6fe3bda-63a6-4a6a-b6a5-41be3f00c9d1	e88fcc37-8fe9-4a8c-932a-89948527de22	g.chr1:215848451G>C	ENST00000366943.2	-	63	13188	c.12802C>G	c.(12802-12804)Cca>Gca	p.P4268A	USH2A_ENST00000307340.3_Missense_Mutation_p.P4268A			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4268	Fibronectin type-III 28.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		atcacaggtggagagagacct	0.443000										HNSCC(13;0.011)			3	36					0	0	0.004672	0	0
NF1	4763	broad.mit.edu	37	17	29670110	29670110	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6975-01A-11D-1945-08	TCGA-55-6975-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6fe3bda-63a6-4a6a-b6a5-41be3f00c9d1	e88fcc37-8fe9-4a8c-932a-89948527de22	g.chr17:29670110C>G	ENST00000358273.4	+	48	7529	c.7146C>G	c.(7144-7146)ttC>ttG	p.F2382L	NF1_ENST00000417592.2_Missense_Mutation_p.F95L|NF1_ENST00000356175.3_Missense_Mutation_p.F2361L|NF1_ENST00000444181.2_Missense_Mutation_p.F175L	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2382					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GACTCAATTTCAACTCTAACT	0.333000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			3	42					0	0	0.004672	0	0
PREX1	57580	broad.mit.edu	37	20	47342840	47342840	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6975-01A-11D-1945-08	TCGA-55-6975-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6fe3bda-63a6-4a6a-b6a5-41be3f00c9d1	e88fcc37-8fe9-4a8c-932a-89948527de22	g.chr20:47342840G>A	ENST00000396220.1	-	5	630	c.608C>T	c.(607-609)cCg>cTg	p.P203L	PREX1_ENST00000371941.3_Missense_Mutation_p.P203L			Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	203	DH.				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			AAGGAGGAGCGGGTACTTGCA	0.478000													12	31					0	0	0.001855	0	0
RYR2	6262	broad.mit.edu	37	1	237777927	237777927	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6975-01A-11D-1945-08	TCGA-55-6975-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6fe3bda-63a6-4a6a-b6a5-41be3f00c9d1	e88fcc37-8fe9-4a8c-932a-89948527de22	g.chr1:237777927C>G	ENST00000366574.2	+	37	5816	c.5499C>G	c.(5497-5499)atC>atG	p.I1833M	RYR2_ENST00000542537.1_Missense_Mutation_p.I1817M|RYR2_ENST00000360064.6_Missense_Mutation_p.I1831M	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1833	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TCATGGGCATCTTTCACAACG	0.502000													36	131					0	0	0.003755	0	0
CCDC108	255101	broad.mit.edu	37	2	219892558	219892558	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-6975-01A-11D-1945-08	TCGA-55-6975-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6fe3bda-63a6-4a6a-b6a5-41be3f00c9d1	e88fcc37-8fe9-4a8c-932a-89948527de22	g.chr2:219892558G>T	ENST00000341552.5	-	13	2108	c.2025C>A	c.(2023-2025)tgC>tgA	p.C675*	CCDC108_ENST00000453220.1_Nonsense_Mutation_p.C675*|CCDC108_ENST00000441968.1_Nonsense_Mutation_p.C675*|CCDC108_ENST00000410037.1_Nonsense_Mutation_p.C610*|CCDC108_ENST00000409865.3_Nonsense_Mutation_p.C664*	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	675						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGTTCATCAGGCACAGGGGTA	0.622000													16	31					6.72482e-11	1.04075e-10	0.003163	1	0
PAPPA2	60676	broad.mit.edu	37	1	176668239	176668239	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6975-01A-11D-1945-08	TCGA-55-6975-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6fe3bda-63a6-4a6a-b6a5-41be3f00c9d1	e88fcc37-8fe9-4a8c-932a-89948527de22	g.chr1:176668239C>A	ENST00000367662.3	+	8	3914	c.2750C>A	c.(2749-2751)cCt>cAt	p.P917H		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	917					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CCCCCAGGGCCTCCTGATGTG	0.537000													21	87					2.4624e-09	3.72223e-09	0.008871	1	0
MIA3	375056	broad.mit.edu	37	1	222832107	222832107	+	Missense_Mutation	SNP	A	A	T			TCGA-55-6975-01A-11D-1945-08	TCGA-55-6975-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6fe3bda-63a6-4a6a-b6a5-41be3f00c9d1	e88fcc37-8fe9-4a8c-932a-89948527de22	g.chr1:222832107A>T	ENST00000344922.5	+	19	4676	c.4651A>T	c.(4651-4653)Agg>Tgg	p.R1551W	MIA3_ENST00000344441.6_Missense_Mutation_p.R1551W|MIA3_ENST00000340535.7_Missense_Mutation_p.R429W|MIA3_ENST00000344507.1_Intron	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	1551					exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		AAGAGAGCACAGGCTGTCAGC	0.428000													5	217					0	0	0.000602	0	0
VCAN	1462	broad.mit.edu	37	5	82876243	82876243	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6975-01A-11D-1945-08	TCGA-55-6975-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6fe3bda-63a6-4a6a-b6a5-41be3f00c9d1	e88fcc37-8fe9-4a8c-932a-89948527de22	g.chr5:82876243C>T	ENST00000265077.3	+	15	10746	c.10181C>T	c.(10180-10182)tCg>tTg	p.S3394L	VCAN_ENST00000512590.2_Missense_Mutation_p.S1592L|VCAN_ENST00000502527.2_Missense_Mutation_p.S653L|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000342785.4_Missense_Mutation_p.S1640L|VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000343200.5_Missense_Mutation_p.S2407L	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	3394					cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		TGGCAGGAGTCGAGGCGCTGA	0.408000													13	23					0	0	0.001855	0	0
DNHD1	144132	broad.mit.edu	37	11	6592281	6592281	+	Silent	SNP	A	A	C			TCGA-55-6975-01A-11D-1945-08	TCGA-55-6975-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6fe3bda-63a6-4a6a-b6a5-41be3f00c9d1	e88fcc37-8fe9-4a8c-932a-89948527de22	g.chr11:6592281A>C	ENST00000254579.6	+	42	14103	c.13539A>C	c.(13537-13539)gcA>gcC	p.A4513A	DNHD1_ENST00000527990.2_Silent_p.A4513A	NM_144666.2	NP_653267.2	Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	4513					microtubule-based movement	dynein complex	microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		TGAAGGGCGCACCCCCGTGCC	0.677000													5	30					0	0	0.001368	0	0
NBEA	26960	broad.mit.edu	37	13	35685096	35685096	+	Silent	SNP	C	C	T			TCGA-55-6975-01A-11D-1945-08	TCGA-55-6975-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6fe3bda-63a6-4a6a-b6a5-41be3f00c9d1	e88fcc37-8fe9-4a8c-932a-89948527de22	g.chr13:35685096C>T	ENST00000540320.1	+	13	2517	c.1983C>T	c.(1981-1983)ggC>ggT	p.G661G	NBEA_ENST00000310336.4_Silent_p.G661G|NBEA_ENST00000400445.3_Silent_p.G661G|NBEA_ENST00000379939.2_Silent_p.G661G			Q8NFP9	NBEA_HUMAN	neurobeachin	661						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		ACAGTAGTGGCATTACACCTA	0.378000													7	48					0	0	0.006214	0	0
PTPRD	5789	broad.mit.edu	37	9	8517911	8517911	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6975-01A-11D-1945-08	TCGA-55-6975-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6fe3bda-63a6-4a6a-b6a5-41be3f00c9d1	e88fcc37-8fe9-4a8c-932a-89948527de22	g.chr9:8517911C>A	ENST00000381196.4	-	18	2023	c.1480G>T	c.(1480-1482)Gct>Tct	p.A494S	PTPRD_ENST00000540109.1_Missense_Mutation_p.A494S|PTPRD_ENST00000358503.5_Missense_Mutation_p.A481S|PTPRD_ENST00000360074.4_Missense_Mutation_p.A481S|PTPRD_ENST00000486161.1_Missense_Mutation_p.A494S|PTPRD_ENST00000356435.5_Missense_Mutation_p.A494S|PTPRD_ENST00000355233.5_Missense_Mutation_p.A494S|PTPRD_ENST00000397606.3_Missense_Mutation_p.A484S|PTPRD_ENST00000397611.3_Missense_Mutation_p.A491S|PTPRD_ENST00000397617.3_Missense_Mutation_p.A484S|PTPRD_ENST00000537002.1_Missense_Mutation_p.A491S	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	494	Fibronectin type-III 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GAGGTAAAAGCCAGGACTTTG	0.443000										TSP Lung(15;0.13)			10	42					1.08611e-07	1.51822e-07	0.000978	1	0
GSDMC	56169	broad.mit.edu	37	8	130789826	130789826	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6975-01A-11D-1945-08	TCGA-55-6975-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6fe3bda-63a6-4a6a-b6a5-41be3f00c9d1	e88fcc37-8fe9-4a8c-932a-89948527de22	g.chr8:130789826G>C	ENST00000276708.4	-	2	889	c.8C>G	c.(7-9)tCc>tGc	p.S3C		NM_031415.2	NP_113603.1	Q9BYG8	GSDMC_HUMAN	gasdermin C	3						mitochondrion				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	26						TTCCAACATGGAGGGCATGTT	0.408000													22	60					0	0	0.003330	0	0
KRAS	3845	broad.mit.edu	37	12	25398282	25398282	+	Missense_Mutation	SNP	C	C	A	rs121913535		TCGA-55-6975-01A-11D-1945-08	TCGA-55-6975-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6fe3bda-63a6-4a6a-b6a5-41be3f00c9d1	e88fcc37-8fe9-4a8c-932a-89948527de22	g.chr12:25398282C>A	ENST00000311936.3	-	2	228	c.37G>T	c.(37-39)Ggc>Tgc	p.G13C	KRAS_ENST00000256078.4_Missense_Mutation_p.G13C|KRAS_ENST00000556131.1_Missense_Mutation_p.G13C|KRAS_ENST00000557334.1_Missense_Mutation_p.G13C	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	13			G -> D (in a breast carcinoma cell line and GASC; somatic mutation).|G -> R (in pylocytic astrocytoma; somatic mutation; increase activation of the Ras pathway).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G13C(213)|p.G13S(59)|p.G13R(43)|p.G12_G13insG(3)|p.G13N(1)|p.G13I(1)|p.G12_G13insA(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			TTGCCTACGCCACCAGCTCCA	0.343000	G13C(MORCPR_LUNG)|G13C(NCIH1355_LUNG)|G13C(NCIH1734_LUNG)|G13C(TOV21G_OVARY)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			6	18					1.12685e-05	1.4797e-05	0.004482	1	0
BRWD3	254065	broad.mit.edu	37	X	79938052	79938052	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6975-01A-11D-1945-08	TCGA-55-6975-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6fe3bda-63a6-4a6a-b6a5-41be3f00c9d1	e88fcc37-8fe9-4a8c-932a-89948527de22	g.chrX:79938052C>G	ENST00000373275.4	-	38	4525	c.4309G>C	c.(4309-4311)Gca>Cca	p.A1437P	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1437										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						CTCTGGATTGCTGACTTATAT	0.388000													38	46					0	0	0.004878	0	0
E2F4	1874	broad.mit.edu	37	16	67228324	67228324	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6975-01A-11D-1945-08	TCGA-55-6975-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6fe3bda-63a6-4a6a-b6a5-41be3f00c9d1	e88fcc37-8fe9-4a8c-932a-89948527de22	g.chr16:67228324G>T	ENST00000379378.3	+	5	534	c.475G>T	c.(475-477)Gcc>Tcc	p.A159S	E2F4_ENST00000564718.1_3'UTR	NM_001950.3	NP_001941.2	Q16254	E2F4_HUMAN	E2F transcription factor 4, p107/p130-binding	159	Dimerization (Potential).				G1 phase of mitotic cell cycle	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			breast(4)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)	11		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000697)|Epithelial(162;0.00303)|all cancers(182;0.0325)		GGCCATCCGGGCCCCATCAGG	0.627000													12	39					4.7546e-09	7.02385e-09	0.004007	1	0
CPED1	79974	broad.mit.edu	37	7	120884326	120884326	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6975-01A-11D-1945-08	TCGA-55-6975-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6fe3bda-63a6-4a6a-b6a5-41be3f00c9d1	e88fcc37-8fe9-4a8c-932a-89948527de22	g.chr7:120884326G>T	ENST00000310396.5	+	18	2711	c.2244G>T	c.(2242-2244)caG>caT	p.Q748H	CPED1_ENST00000423795.1_Missense_Mutation_p.Q528H|CPED1_ENST00000450913.2_Missense_Mutation_p.Q748H	NM_024913.4	NP_079189.4			cadherin-like and PC-esterase domain containing 1																		TAACCTGGCAGCCCCACAACT	0.498000													21	56					6.33239e-15	1.02901e-14	0.001523	1	0
TTN	7273	broad.mit.edu	37	2	179612962	179612962	+	Missense_Mutation	SNP	T	T	C			TCGA-55-6975-01A-11D-1945-08	TCGA-55-6975-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6fe3bda-63a6-4a6a-b6a5-41be3f00c9d1	e88fcc37-8fe9-4a8c-932a-89948527de22	g.chr2:179612962T>C	ENST00000360870.5	-	46	14387	c.14165A>G	c.(14164-14166)aAa>aGa	p.K4722R	TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	831	Ig-like 27.						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)			AGAAAAGGATTTAAGAGAAAG	0.328000													3	56					0	0	0.004672	0	0
CLEC12B	387837	broad.mit.edu	37	12	10167220	10167220	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6975-01A-11D-1945-08	TCGA-55-6975-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6fe3bda-63a6-4a6a-b6a5-41be3f00c9d1	e88fcc37-8fe9-4a8c-932a-89948527de22	g.chr12:10167220G>C	ENST00000396502.1	+	3	417	c.289G>C	c.(289-291)Ggc>Cgc	p.G97R	CLEC12B_ENST00000338896.5_Missense_Mutation_p.G97R	NM_205852.2	NP_995324.2	Q2HXU8	CL12B_HUMAN	C-type lectin domain family 12, member B	97						integral to membrane|plasma membrane	receptor activity|sugar binding			central_nervous_system(2)|large_intestine(2)|lung(5)	9						CCAGCAACTGGGCAACTCCAA	0.428000													12	32					0	0	0.001855	0	0
HAPLN3	145864	broad.mit.edu	37	15	89421483	89421483	+	Silent	SNP	C	C	T			TCGA-55-6975-01A-11D-1945-08	TCGA-55-6975-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6fe3bda-63a6-4a6a-b6a5-41be3f00c9d1	e88fcc37-8fe9-4a8c-932a-89948527de22	g.chr15:89421483C>T	ENST00000359595.3	-	5	1015	c.801G>A	c.(799-801)cgG>cgA	p.R267R	HAPLN3_ENST00000562889.1_Silent_p.R329R	NM_178232.2	NP_839946.1	Q96S86	HPLN3_HUMAN	hyaluronan and proteoglycan link protein 3	267	Link 2.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	17	Lung NSC(78;0.0392)|all_lung(78;0.077)					GGTAGTACACCCGCCCTGGGG	0.642000													6	133					0	0	0.001984	0	0
CWC22	57703	broad.mit.edu	37	2	180818938	180818938	+	Silent	SNP	T	T	C			TCGA-55-6975-01A-11D-1945-08	TCGA-55-6975-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6fe3bda-63a6-4a6a-b6a5-41be3f00c9d1	e88fcc37-8fe9-4a8c-932a-89948527de22	g.chr2:180818938T>C	ENST00000410053.3	-	16	1982	c.1683A>G	c.(1681-1683)ccA>ccG	p.P561P	CWC22_ENST00000295749.6_Silent_p.P561P	NM_020943.2	NP_065994.1	Q9HCG8	CWC22_HUMAN	CWC22 spliceosome-associated protein homolog (S. cerevisiae)	561	MI.					catalytic step 2 spliceosome	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(8)|stomach(1)	30						TTACACTCCATGGAAGTGAAT	0.343000													10	28					0	0	0.000978	0	0
PCDHB12	56124	broad.mit.edu	37	5	140590309	140590309	+	Silent	SNP	G	G	A			TCGA-55-6975-01A-11D-1945-08	TCGA-55-6975-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6fe3bda-63a6-4a6a-b6a5-41be3f00c9d1	e88fcc37-8fe9-4a8c-932a-89948527de22	g.chr5:140590309G>A	ENST00000239450.2	+	1	2019	c.1830G>A	c.(1828-1830)acG>acA	p.T610T	PCDHB12_ENST00000541609.1_Silent_p.T273T	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		610	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCAAGGCCACGGAGCCCGGGC	0.711000													15	119					0	0	0.003330	0	0
CLIP1	6249	broad.mit.edu	37	12	122845560	122845560	+	Silent	SNP	G	G	A			TCGA-55-6975-01A-11D-1945-08	TCGA-55-6975-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6fe3bda-63a6-4a6a-b6a5-41be3f00c9d1	e88fcc37-8fe9-4a8c-932a-89948527de22	g.chr12:122845560G>A	ENST00000358808.2	-	5	1105	c.951C>T	c.(949-951)agC>agT	p.S317S	CLIP1_ENST00000540338.1_Silent_p.S317S|CLIP1_ENST00000545889.1_Silent_p.S18S|CLIP1_ENST00000537178.1_Silent_p.S317S|CLIP1_ENST00000361654.4_Silent_p.S317S|CLIP1_ENST00000302528.7_Silent_p.S317S	NM_001247997.1|NM_002956.2	NP_001234926.1|NP_002947.1	P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	317	Ser-rich.				mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		AGCTCATGGAGCTGAGGGAAG	0.612000													13	28					0	0	0.002450	0	0
OR2T11	127077	broad.mit.edu	37	1	248790069	248790069	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6975-01A-11D-1945-08	TCGA-55-6975-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6fe3bda-63a6-4a6a-b6a5-41be3f00c9d1	e88fcc37-8fe9-4a8c-932a-89948527de22	g.chr1:248790069C>T	ENST00000330803.2	-	1	422	c.361G>A	c.(361-363)Gtg>Atg	p.V121M		NM_001001964.1	NP_001001964.1	Q8NH01	O2T11_HUMAN	olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene)	121					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(5)|lung(20)|skin(2)	28	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CAGACAGCCACGTAGCAGTCA	0.537000													19	48					0	0	0.008871	0	0
PPARGC1A	10891	broad.mit.edu	37	4	23815375	23815375	+	Silent	SNP	C	C	T	rs146697747		TCGA-55-6975-01A-11D-1945-08	TCGA-55-6975-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6fe3bda-63a6-4a6a-b6a5-41be3f00c9d1	e88fcc37-8fe9-4a8c-932a-89948527de22	g.chr4:23815375C>T	ENST00000264867.2	-	8	1850	c.1731G>A	c.(1729-1731)tcG>tcA	p.S577S	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	577	Arg/Ser-rich.				androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				ATCGGGAACACGACCTGTGTC	0.458000													7	43					0	0	0.006214	0	0
MYH7	4625	broad.mit.edu	37	14	23883259	23883259	+	Missense_Mutation	SNP	A	A	G			TCGA-55-6975-01A-11D-1945-08	TCGA-55-6975-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6fe3bda-63a6-4a6a-b6a5-41be3f00c9d1	e88fcc37-8fe9-4a8c-932a-89948527de22	g.chr14:23883259A>G	ENST00000355349.3	-	38	5774	c.5612T>C	c.(5611-5613)cTg>cCg	p.L1871P		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1871					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CTTTAGCTGCAGCTTGTCTAC	0.627000													20	67					0	0	0.003330	0	0
FAM21EP	100421577	broad.mit.edu	37	10	51807977	51807977	+	RNA	SNP	G	G	A			TCGA-55-6975-01A-11D-1945-08	TCGA-55-6975-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6fe3bda-63a6-4a6a-b6a5-41be3f00c9d1	e88fcc37-8fe9-4a8c-932a-89948527de22	g.chr10:51807977G>A	ENST00000456967.1	-	0	1875					NR_038275.1																						CATCACTGCTGAACAACAGGG	0.438000													24	89					0	0	0.007291	0	0
PARP3	10039	broad.mit.edu	37	3	51978551	51978551	+	Missense_Mutation	SNP	T	T	C			TCGA-55-6975-01A-11D-1945-08	TCGA-55-6975-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6fe3bda-63a6-4a6a-b6a5-41be3f00c9d1	e88fcc37-8fe9-4a8c-932a-89948527de22	g.chr3:51978551T>C	ENST00000417220.2	+	5	946	c.458T>C	c.(457-459)aTc>aCc	p.I153T	PARP3_ENST00000431474.1_Missense_Mutation_p.I153T|PARP3_ENST00000398755.3_Missense_Mutation_p.I160T			Q9Y6F1	PARP3_HUMAN	poly (ADP-ribose) polymerase family, member 3	153					DNA repair|protein ADP-ribosylation	centriole|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		TACACACTTATCGAAGTACAG	0.547000													38	104					0	0	0.006999	0	0
TTC29	83894	broad.mit.edu	37	4	147861017	147861017	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6975-01A-11D-1945-08	TCGA-55-6975-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6fe3bda-63a6-4a6a-b6a5-41be3f00c9d1	e88fcc37-8fe9-4a8c-932a-89948527de22	g.chr4:147861017G>A	ENST00000513335.1	-	4	308	c.109C>T	c.(109-111)Cgc>Tgc	p.R37C	TTC29_ENST00000398886.4_Missense_Mutation_p.R37C|TTC29_ENST00000325106.4_Missense_Mutation_p.R11C|RP11-292D4.2_ENST00000515530.1_RNA			Q8NA56	TTC29_HUMAN	tetratricopeptide repeat domain 29	11							binding			breast(2)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					AGCTTCGGGCGTGTCATGGGC	0.433000													4	35					0	0	0.000602	0	0
GPCPD1	56261	broad.mit.edu	37	20	5542132	5542132	+	Silent	SNP	T	T	A			TCGA-55-6975-01A-11D-1945-08	TCGA-55-6975-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6fe3bda-63a6-4a6a-b6a5-41be3f00c9d1	e88fcc37-8fe9-4a8c-932a-89948527de22	g.chr20:5542132T>A	ENST00000379019.4	-	16	1586	c.1374A>T	c.(1372-1374)atA>atT	p.I458I	GPCPD1_ENST00000481038.1_5'UTR	NM_019593.3	NP_062539.1	Q9NPB8	GPCP1_HUMAN	glycerophosphocholine phosphodiesterase GDE1 homolog (S. cerevisiae)	458	GDPD.				glycerol metabolic process|lipid metabolic process		carbohydrate binding|glycerophosphodiester phosphodiesterase activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|skin(1)	16						AGATCCATTTTATTTCAATGT	0.328000													4	28					0	0	0.000602	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110476761	110476761	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6975-01A-11D-1945-08	TCGA-55-6975-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6fe3bda-63a6-4a6a-b6a5-41be3f00c9d1	e88fcc37-8fe9-4a8c-932a-89948527de22	g.chr8:110476761C>A	ENST00000378402.5	+	49	7804	c.7700C>A	c.(7699-7701)cCg>cAg	p.P2567Q		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2567					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GTCACCAACCCGAACAATACC	0.478000										HNSCC(38;0.096)			7	43					0.000157383	0.000198639	0.003080	1	0
CARD16	114769	broad.mit.edu	37	11	104912156	104912156	+	Silent	SNP	A	A	G			TCGA-55-6975-01A-11D-1945-08	TCGA-55-6975-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6fe3bda-63a6-4a6a-b6a5-41be3f00c9d1	e88fcc37-8fe9-4a8c-932a-89948527de22	g.chr11:104912156A>G	ENST00000375706.2	-	3	582	c.565T>C	c.(565-567)Ttg>Ctg	p.L189L	CASP1_ENST00000415981.2_Intron|CASP1_ENST00000594519.1_Intron|CASP1_ENST00000598974.1_Intron|CASP1_ENST00000593315.1_Intron	NM_001017534.1	NP_001017534.1			caspase recruitment domain family, member 16											endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	11						CCAGTTTGCAACTCTTTACCT	0.383000													7	35					0	0	0.001984	0	0
MEGF10	84466	broad.mit.edu	37	5	126755779	126755779	+	Silent	SNP	A	A	G			TCGA-55-6975-01A-11D-1945-08	TCGA-55-6975-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6fe3bda-63a6-4a6a-b6a5-41be3f00c9d1	e88fcc37-8fe9-4a8c-932a-89948527de22	g.chr5:126755779A>G	ENST00000274473.6	+	13	1737	c.1470A>G	c.(1468-1470)acA>acG	p.T490T	MEGF10_ENST00000503335.2_Silent_p.T490T|MEGF10_ENST00000508365.1_Silent_p.T490T|MEGF10_ENST00000418761.2_Silent_p.T490T	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	490	Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		CCAGTGGCACATGGGGCTTTG	0.612000													24	45					0	0	0.003954	0	0
LRRTM3	347731	broad.mit.edu	37	10	68687361	68687361	+	Silent	SNP	C	C	G			TCGA-55-6975-01A-11D-1945-08	TCGA-55-6975-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6fe3bda-63a6-4a6a-b6a5-41be3f00c9d1	e88fcc37-8fe9-4a8c-932a-89948527de22	g.chr10:68687361C>G	ENST00000361320.4	+	2	1265	c.687C>G	c.(685-687)gtC>gtG	p.V229V	CTNNA3_ENST00000433211.1_Intron|CTNNA3_ENST00000373744.4_Intron|CTNNA3_ENST00000494580.1_Intron	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	229						integral to membrane				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						CAAGGTTGGTCAGCCTTCAGA	0.458000													29	96					0	0	0.007291	0	0
GPR97	222487	broad.mit.edu	37	16	57718367	57718367	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6975-01A-11D-1945-08	TCGA-55-6975-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6fe3bda-63a6-4a6a-b6a5-41be3f00c9d1	e88fcc37-8fe9-4a8c-932a-89948527de22	g.chr16:57718367G>A	ENST00000333493.4	+	10	1389	c.1228G>A	c.(1228-1230)Gat>Aat	p.D410N	GPR97_ENST00000327655.6_Missense_Mutation_p.D200N|RP11-405F3.4_ENST00000563062.1_RNA|GPR97_ENST00000450388.3_Missense_Mutation_p.D290N	NM_170776.4	NP_740746.4	Q86Y34	GPR97_HUMAN	G protein-coupled receptor 97	410					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CACCATCCGTGATAGGGAGAA	0.632000													8	39					0	0	0.004482	0	0
ENPP5	59084	broad.mit.edu	37	6	46129454	46129454	+	Missense_Mutation	SNP	A	A	T			TCGA-55-6975-01A-11D-1945-08	TCGA-55-6975-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6fe3bda-63a6-4a6a-b6a5-41be3f00c9d1	e88fcc37-8fe9-4a8c-932a-89948527de22	g.chr6:46129454A>T	ENST00000371383.2	-	5	1303	c.1043T>A	c.(1042-1044)aTg>aAg	p.M348K	ENPP5_ENST00000230565.3_Missense_Mutation_p.M348K			Q9UJA9	ENPP5_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative)	348						extracellular region|integral to membrane	hydrolase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	12						TATTGGATGCATATCTGCTAA	0.388000													68	263					0	0	0.003610	0	0
TRAV8-4	28682	broad.mit.edu	37	14	22363201	22363201	+	RNA	SNP	C	C	T	rs35826564		TCGA-55-6975-01A-11D-1945-08	TCGA-55-6975-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6fe3bda-63a6-4a6a-b6a5-41be3f00c9d1	e88fcc37-8fe9-4a8c-932a-89948527de22	g.chr14:22363201C>T	ENST00000390438.2	+	0	460																											TACTTCTGTGCTGTGAGTGAC	0.488000													10	49					0	0	0.006214	0	0
AASS	10157	broad.mit.edu	37	7	121732955	121732955	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6975-01A-11D-1945-08	TCGA-55-6975-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6fe3bda-63a6-4a6a-b6a5-41be3f00c9d1	e88fcc37-8fe9-4a8c-932a-89948527de22	g.chr7:121732955C>A	ENST00000393376.1	-	16	1912	c.1817G>T	c.(1816-1818)gGt>gTt	p.G606V	AASS_ENST00000473553.1_5'UTR|AASS_ENST00000417368.2_Missense_Mutation_p.G606V			Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase	606	Saccharopine dehydrogenase.				protein tetramerization	mitochondrial matrix	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54					L-Glutamic Acid(DB00142)|NADH(DB00157)	GTGATCCAGACCAGGGTCCAA	0.418000													20	77					5.35356e-11	8.38509e-11	0.002780	1	0
NFE2L2	4780	broad.mit.edu	37	2	178098799	178098799	+	Missense_Mutation	SNP	T	T	G			TCGA-55-6975-01A-11D-1945-08	TCGA-55-6975-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6fe3bda-63a6-4a6a-b6a5-41be3f00c9d1	e88fcc37-8fe9-4a8c-932a-89948527de22	g.chr2:178098799T>G	ENST00000397062.3	-	2	800	c.246A>C	c.(244-246)gaA>gaC	p.E82D	NFE2L2_ENST00000397063.4_Missense_Mutation_p.E66D|NFE2L2_ENST00000423513.1_Missense_Mutation_p.E66D|NFE2L2_ENST00000446151.2_Missense_Mutation_p.E66D|NFE2L2_ENST00000464747.1_Missense_Mutation_p.E66D	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	82					transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.E82D(8)|p.G81_F83delGEF(1)		central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			TTGGGAGAAATTCACCTGTCT	0.433000			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)			21	60					0	0	0.001882	0	0
PLD1	5337	broad.mit.edu	37	3	171417564	171417565	+	Frame_Shift_Ins	INS	-	-	C			TCGA-55-6975-01A-11D-1945-08	TCGA-55-6975-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6fe3bda-63a6-4a6a-b6a5-41be3f00c9d1	e88fcc37-8fe9-4a8c-932a-89948527de22	g.chr3:171417564_171417565insC	ENST00000356327.5	-	12	1267_1268	c.1197_1198insG	c.(1195-1200)tgggttfs	p.V400fs	PLD1_ENST00000351298.4_Frame_Shift_Ins_p.V400fs|PLD1_ENST00000340989.4_Frame_Shift_Ins_p.V400fs|PLD1_ENST00000342215.6_Frame_Shift_Ins_p.V400fs	NM_001130081.2	NP_001123553.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	400					cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	CAGTCCAACCTCCAACGATTTC	0.356													97	264	---	---	---	---					
RP11-242J7.1	0	broad.mit.edu	37	4	185536410	185536413	+	RNA	DEL	TTTG	TTTG	-	rs146473442		TCGA-55-6975-01A-11D-1945-08	TCGA-55-6975-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6fe3bda-63a6-4a6a-b6a5-41be3f00c9d1	e88fcc37-8fe9-4a8c-932a-89948527de22	g.chr4:185536410_185536413delTTTG	ENST00000522554.1	-	0	292																											CAAAGCCGATtttgtttgtttgtt	0.451													5	5	---	---	---	---					
ZNF800	168850	broad.mit.edu	37	7	127017356	127017356	+	Frame_Shift_Del	DEL	A	A	-			TCGA-55-6975-01A-11D-1945-08	TCGA-55-6975-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6fe3bda-63a6-4a6a-b6a5-41be3f00c9d1	e88fcc37-8fe9-4a8c-932a-89948527de22	g.chr7:127017356delA	ENST00000393313.1	-	4	776	c.185delT	c.(184-186)tafs	p.L62fs	ZNF800_ENST00000265827.3_Frame_Shift_Del_p.L62fs|ZNF800_ENST00000393312.1_Frame_Shift_Del_p.L62fs			Q2TB10	ZN800_HUMAN	zinc finger protein 800	62					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	32						CACATCTTTTAATAAAATATG	0.318													10	38	---	---	---	---					
FAM171A1	221061	broad.mit.edu	37	10	15255128	15255128	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-6975-01A-11D-1945-08	TCGA-55-6975-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6fe3bda-63a6-4a6a-b6a5-41be3f00c9d1	e88fcc37-8fe9-4a8c-932a-89948527de22	g.chr10:15255128delG	ENST00000378116.4	-	8	2465	c.2459delC	c.(2458-2460)tgfs	p.S821fs		NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	821						integral to membrane				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						TCTCCGACTCGACCCCTCCAA	0.647													8	90	---	---	---	---					
EBLN1	340900	broad.mit.edu	37	10	22498484	22498485	+	In_Frame_Ins	INS	-	-	AGA	rs145490621	by1000genomes	TCGA-55-6975-01A-11D-1945-08	TCGA-55-6975-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6fe3bda-63a6-4a6a-b6a5-41be3f00c9d1	e88fcc37-8fe9-4a8c-932a-89948527de22	g.chr10:22498484_22498485insAGA	ENST00000422359.2	-	1	465_466	c.428_429insTCT	c.(427-429)cat>cTCTat	p.143_143H>LY		NM_001199938.1	NP_001186867.1			endogenous Bornavirus-like nucleoprotein 1																		CAATGCCTATCAGATCACAGCA	0.455													4	2	---	---	---	---					
DHX37	57647	broad.mit.edu	37	12	125465270	125465272	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-55-6975-01A-11D-1945-08	TCGA-55-6975-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6fe3bda-63a6-4a6a-b6a5-41be3f00c9d1	e88fcc37-8fe9-4a8c-932a-89948527de22	g.chr12:125465270_125465272delCTC	ENST00000308736.2	-	4	600_602	c.502_504delGAG	c.(502-504)del	p.E168del		NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	168							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	p.E168delE(3)		breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		CCGATTCCGActcctcctcctcc	0.690													2	4	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7577022	7577025	+	Frame_Shift_Del	DEL	GCTT	GCTT	-	rs121913344		TCGA-55-6975-01A-11D-1945-08	TCGA-55-6975-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6fe3bda-63a6-4a6a-b6a5-41be3f00c9d1	e88fcc37-8fe9-4a8c-932a-89948527de22	g.chr17:7577022_7577025delGCTT	ENST00000420246.2	-	8	1045_1048	c.913_916delAAGC	c.(913-918)gafs	p.KR305fs	TP53_ENST00000269305.4_Frame_Shift_Del_p.KR305fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.KR305fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.KR305fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.KR305fs|TP53_ENST00000413465.2_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	305	Interaction with CARM1.|Interaction with HIPK1 (By similarity).		K -> E (in a sporadic cancer; somatic mutation).|K -> M (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|K -> N (in sporadic cancers; somatic mutation; loss of nuclear localization).|K -> R (in sporadic cancers; somatic mutation).|K -> T (in a sporadic cancer; 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.R306*(133)|p.K305*(19)|p.0?(8)|p.K305N(3)|p.?(3)|p.K305R(2)|p.R306fs*39(2)|p.K305K(1)|p.L265_K305del41(1)|p.K305fs*1(1)|p.K305E(1)|p.K305fs*32(1)|p.K305T(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)		TGCTTACCTCGCTTAGTGCTCCCT	0.564	R306*(HCC1937_BREAST)|R306*(JURLMK1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R306*(MFE296_ENDOMETRIUM)|R306*(MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R306*(RCM1_LARGE_INTESTINE)	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	56	---	---	---	---					
KIZ-AS1	101929591	broad.mit.edu	37	20	21146788	21146789	+	RNA	INS	-	-	T	rs34056823		TCGA-55-6975-01A-11D-1945-08	TCGA-55-6975-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6fe3bda-63a6-4a6a-b6a5-41be3f00c9d1	e88fcc37-8fe9-4a8c-932a-89948527de22	g.chr20:21146788_21146789insT	ENST00000591761.1	-	0	5051				PLK1S1_ENST00000457464.1_RNA																							tgtattttGTATTTTTTTTTTT	0.401													2	4	---	---	---	---					
ERCC6L	54821	broad.mit.edu	37	X	71425322	71425322	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-6975-01A-11D-1945-08	TCGA-55-6975-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6fe3bda-63a6-4a6a-b6a5-41be3f00c9d1	e88fcc37-8fe9-4a8c-932a-89948527de22	g.chrX:71425322delG	ENST00000373657.1	-	3	3528	c.2926delC	c.(2926-2928)ttfs	p.L976fs	ERCC6L_ENST00000334463.3_Frame_Shift_Del_p.L1099fs|PIN4_ENST00000423432.2_Intron			Q2NKX8	ERC6L_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6-like	1099					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol	ATP binding|DNA binding|helicase activity|protein binding			breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38	Renal(35;0.156)					ATATTAATAAGAGACCTCCTA	0.428													32	31	---	---	---	---					
