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
NAT8	9027	broad.mit.edu	37	2	73868451	73868451	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr2:73868451A>G	ENST00000272425.3	-	2	454	c.305T>C	c.(304-306)cTg>cCg	p.L102P		NM_003960.3|NM_016347.2	NP_003951.3|NP_057431.2	Q9UHE5	NAT8_HUMAN	N-acetyltransferase 8 (GCN5-related, putative)	102	N-acetyltransferase.				gastrulation with mouth forming second|response to drug	integral to membrane	N-acetyltransferase activity			breast(1)|endometrium(2)|kidney(2)|lung(2)|ovary(1)|prostate(1)	9						ACGCTCACTCAGGTAGGATTT	0.537000													49	146					0	0	0.870114	0	0
ATP2A2	488	broad.mit.edu	37	12	110734534	110734534	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr12:110734534A>T	ENST00000395494.2	+	5	1018	c.455A>T	c.(454-456)gAa>gTa	p.E152V	ATP2A2_ENST00000550248.2_3'UTR|ATP2A2_ENST00000308664.6_Missense_Mutation_p.E152V|ATP2A2_ENST00000539276.2_Missense_Mutation_p.E152V			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	152					ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						GATATTGTAGAAATTGCTGGT	0.343000													26	94					0	0	0.667858	0	0
CACYBP	27101	broad.mit.edu	37	1	174973869	174973869	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr1:174973869A>T	ENST00000367681.2	+	2	646	c.6A>T	c.(4-6)caA>caT	p.Q2H	CACYBP_ENST00000367679.2_Missense_Mutation_p.Q45H|CACYBP_ENST00000405362.1_Missense_Mutation_p.Q2H|CACYBP_ENST00000406752.1_Missense_Mutation_p.Q45H	NM_001007214.1	NP_001007215.1	Q9HB71	CYBP_HUMAN	calcyclin binding protein	45	Interaction with SIAH1.					beta-catenin destruction complex	protein homodimerization activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)	11						ACAAGATGCAACAGAAATCAC	0.403000													28	72					0	0	0.681144	0	0
PRKDC	5591	broad.mit.edu	37	8	48762023	48762023	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr8:48762023C>A	ENST00000314191.2	-	54	7100	c.7044G>T	c.(7042-7044)ttG>ttT	p.L2348F	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.L2348F	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2349					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				GATGTTGCTTCAATTGTTTCG	0.403000								Non-homologous end-joining					23	79					1.22574e-08	1.41564e-08	0.624587	1	0
PGK1	5230	broad.mit.edu	37	X	77369583	77369583	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chrX:77369583T>A	ENST00000373316.4	+	4	510	c.343T>A	c.(343-345)Tct>Act	p.S115T	PGK1_ENST00000537456.1_Missense_Mutation_p.S87T|PGK1_ENST00000442431.1_Intron	NM_000291.3	NP_000282.1	P00558	PGK1_HUMAN	phosphoglycerate kinase 1	115					gluconeogenesis|glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	24						AGCTGCTGGGTCTGTCATCCT	0.493000													86	79					0	0	0.870114	0	0
PTEN	5728	broad.mit.edu	37	10	89712006	89712006	+	Silent	SNP	C	C	T			TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr10:89712006C>T	ENST00000371953.3	+	6	1981	c.624C>T	c.(622-624)ggC>ggT	p.G208G	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	208	C2 tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.R55fs*1(5)|p.?(4)|p.G165fs*9(3)|p.Y27fs*1(2)|p.G165_*404del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TGTTCAGTGGCGGAACTTGCA	0.328000		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			77	247					0	0	0.870114	0	0
DOCK3	1795	broad.mit.edu	37	3	51265449	51265449	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr3:51265449C>T	ENST00000266037.9	+	17	1600	c.1577C>T	c.(1576-1578)gCa>gTa	p.A526V		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	526	DHR-1.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		TTTGGCTTTGCATTCTCAACC	0.448000													21	38					0	0	0.639603	0	0
HYDIN	54768	broad.mit.edu	37	16	70866802	70866802	+	Silent	SNP	A	A	G			TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr16:70866802A>G	ENST00000393567.2	-	80	13998	c.13848T>C	c.(13846-13848)ccT>ccC	p.P4616P		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	4616										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TTAGACTCAGAGGACTGCCTC	0.562000													7	38					0	0	0.335167	0	0
TRPM5	29850	broad.mit.edu	37	11	2433463	2433463	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr11:2433463G>T	ENST00000452833.1	-	16	2390	c.2382C>A	c.(2380-2382)gaC>gaA	p.D794E	TRPM5_ENST00000528453.1_Missense_Mutation_p.D792E|TRPM5_ENST00000155858.6_Missense_Mutation_p.D792E|TRPM5_ENST00000533060.1_Missense_Mutation_p.D792E			Q9NZQ8	TRPM5_HUMAN	transient receptor potential cation channel, subfamily M, member 5	792						integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		CCAGGTGTGTGTCCTCGTCTG	0.582000													50	159					1.4374e-25	1.78586e-25	0.870114	1	0
HIVEP1	3096	broad.mit.edu	37	6	12164458	12164458	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr6:12164458G>A	ENST00000379388.2	+	9	8253	c.7921G>A	c.(7921-7923)Gca>Aca	p.A2641T	HIVEP1_ENST00000541134.1_Missense_Mutation_p.A506T	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	2641					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				GGCTGCCTCGGCAAATCACGT	0.507000													4	58					0	0	0.150653	0	0
COMMD10	51397	broad.mit.edu	37	5	115423221	115423221	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr5:115423221T>A	ENST00000274458.4	+	2	131	c.69T>A	c.(67-69)aaT>aaA	p.N23K	COMMD10_ENST00000515539.1_Missense_Mutation_p.N9K	NM_016144.2	NP_057228.1	Q9Y6G5	COMDA_HUMAN	COMM domain containing 10	23							protein binding			endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|stomach(2)	9		all_cancers(142;0.0834)|all_epithelial(76;0.00314)|Prostate(80;0.0102)|Ovarian(225;0.232)		OV - Ovarian serous cystadenocarcinoma(64;4.3e-07)|Epithelial(69;8.06e-07)|all cancers(49;4.06e-05)		CACTGATAAATGCAATAGATA	0.353000													36	119					0	0	0.779181	0	0
P2RX7	5027	broad.mit.edu	37	12	121570799	121570799	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr12:121570799A>G	ENST00000546057.1	+	1	169	c.26A>G	c.(25-27)gAt>gGt	p.D9G	P2RX7_ENST00000443520.3_3'UTR|P2RX7_ENST00000377162.2_Missense_Mutation_p.D9G|P2RX7_ENST00000328963.5_5'UTR|P2RX7_ENST00000541446.1_5'UTR|P2RX7_ENST00000535250.1_5'UTR	NM_002562.5	NP_002553.3	A8K2Z0	A8K2Z0_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 7	9						integral to membrane	ATP binding|ion channel activity|receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|stomach(1)	19	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					AGCTGCAGTGATGTTTTCCAG	0.547000													36	102					0	0	0.812448	0	0
PRKDC	5591	broad.mit.edu	37	8	48762043	48762043	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr8:48762043C>T	ENST00000314191.2	-	54	7080	c.7024G>A	c.(7024-7026)Gaa>Aaa	p.E2342K	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.E2342K	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2343					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				GCAACCAGTTCACACAGAGAC	0.368000								Non-homologous end-joining					20	55					0	0	0.575678	0	0
TIPIN	54962	broad.mit.edu	37	15	66645153	66645153	+	Splice_Site	SNP	C	C	T			TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr15:66645153C>T	ENST00000261881.4	-	2	218	c.133_splice	c.e2+1	p.E45_splice	TIPIN_ENST00000367709.4_5'UTR	NM_017858.2	NP_060328.2	Q9BVW5	TIPIN_HUMAN	TIMELESS interacting protein	45					cell division|DNA replication checkpoint|intra-S DNA damage checkpoint|mitosis|positive regulation of cell proliferation|regulation of DNA replication involved in S phase|replication fork protection	cytoplasm|nuclear chromatin	protein binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	7						CTATACATACCTTCATCAGGC	0.498000													19	58					0	0	0.592651	0	0
HFM1	164045	broad.mit.edu	37	1	91784679	91784679	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr1:91784679A>C	ENST00000370425.3	-	25	2866	c.2768T>G	c.(2767-2769)cTt>cGt	p.L923R	HFM1_ENST00000294696.5_Missense_Mutation_p.L155R|HFM1_ENST00000370424.3_Missense_Mutation_p.L602R|HFM1_ENST00000462405.1_5'UTR	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	923	SEC63.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		GTTTTCCCAAAGTTTACACCT	0.343000													22	76					0	0	0.624587	0	0
CCDC178	374864	broad.mit.edu	37	18	30847243	30847243	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr18:30847243C>A	ENST00000383096.3	-	13	1377	c.1195G>T	c.(1195-1197)Gtt>Ttt	p.V399F	CCDC178_ENST00000403303.1_Missense_Mutation_p.V399F|CCDC178_ENST00000583930.1_Missense_Mutation_p.V399F|CCDC178_ENST00000402325.1_Missense_Mutation_p.V399F|CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000406524.2_Missense_Mutation_p.V399F|CCDC178_ENST00000579947.1_Missense_Mutation_p.V399F|CCDC178_ENST00000300227.8_Missense_Mutation_p.V399F					coiled-coil domain containing 178																		TGGTCATAAACTCTTCTCAAA	0.308000													37	132					1.66425e-11	2.00689e-11	0.804634	1	0
KLK12	43849	broad.mit.edu	37	19	51532649	51532649	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr19:51532649A>G	ENST00000250352.11	-	5	999	c.326T>C	c.(325-327)gTg>gCg	p.V109A	KLK12_ENST00000250351.4_Missense_Mutation_p.V219A|KLK12_ENST00000319590.4_Missense_Mutation_p.V219A|KLK12_ENST00000529888.1_3'UTR|KLK12_ENST00000525263.1_Missense_Mutation_p.V219A			Q9UKR0	KLK12_HUMAN	kallikrein-related peptidase 12	219	Peptidase S1.				proteolysis	extracellular region|soluble fraction	serine-type endopeptidase activity			endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	12		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00399)		ACAGGGCCCCACAGACCCCCA	0.552000													35	99					0	0	0.788014	0	0
PNPLA8	50640	broad.mit.edu	37	7	108155244	108155244	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr7:108155244C>A	ENST00000426128.2	-	2	817	c.692G>T	c.(691-693)cGg>cTg	p.R231L	PNPLA8_ENST00000483879.1_Intron|PNPLA8_ENST00000436062.1_Missense_Mutation_p.R231L|PNPLA8_ENST00000422087.1_Missense_Mutation_p.R231L|PNPLA8_ENST00000453144.1_Missense_Mutation_p.R131L|PNPLA8_ENST00000257694.8_Missense_Mutation_p.R231L|PNPLA8_ENST00000388728.5_Missense_Mutation_p.R231L	NM_001256009.1	NP_001242938.1	Q9NP80	PLPL8_HUMAN	patatin-like phospholipase domain containing 8	231					fatty acid metabolic process|lipid catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|membrane fraction|perinuclear region of cytoplasm|peroxisomal membrane	ATP binding|calcium-independent phospholipase A2 activity|lysophospholipase activity			breast(5)|endometrium(1)|kidney(3)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(3)	29						TGATTTGTCCCGGAAATGTTC	0.343000													16	98					2.31682e-05	2.53306e-05	0.479597	1	0
PRKCB	5579	broad.mit.edu	37	16	24202477	24202477	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr16:24202477C>G	ENST00000303531.7	+	16	1941	c.1789C>G	c.(1789-1791)Cat>Gat	p.H597D	PRKCB_ENST00000321728.7_Missense_Mutation_p.H597D	NM_002738.6	NP_002729.2	P05771	KPCB_HUMAN	protein kinase C, beta	597	Protein kinase.				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	TATCAAAGAGCATGCATTTTT	0.453000													21	129					0	0	0.592651	0	0
TH	7054	broad.mit.edu	37	11	2189843	2189843	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr11:2189843C>T	ENST00000381178.1	-	4	476	c.458G>A	c.(457-459)cGa>cAa	p.R153Q	TH_ENST00000352909.3_Missense_Mutation_p.R122Q|TH_ENST00000333684.5_Missense_Mutation_p.R126Q|TH_ENST00000381175.1_Missense_Mutation_p.R149Q	NM_199292.2	NP_954986.2	P07101	TY3H_HUMAN	tyrosine hydroxylase	153					dopamine biosynthetic process from tyrosine|embryonic camera-type eye morphogenesis|epinephrine biosynthetic process|eye photoreceptor cell development|heart morphogenesis|hormone biosynthetic process|learning|locomotory behavior|memory|neurotransmitter biosynthetic process|neurotransmitter secretion|norepinephrine biosynthetic process|pigmentation|regulation of heart contraction|response to ethanol|response to hypoxia|synaptic transmission, dopaminergic|visual perception	cytosol|internal side of plasma membrane|melanosome membrane|nucleus|perikaryon|smooth endoplasmic reticulum	protein binding|tyrosine 3-monooxygenase activity			NS(1)|endometrium(1)|large_intestine(1)|lung(7)|skin(1)	11		all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360)	GCCCCCAGCTCGCGGCCTCTG	0.632000													7	19					0	0	0.278610	0	0
HERC5	51191	broad.mit.edu	37	4	89383504	89383504	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr4:89383504G>A	ENST00000264350.3	+	4	838	c.685G>A	c.(685-687)Gag>Aag	p.E229K		NM_016323.3	NP_057407.2	Q9UII4	HERC5_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 5	229					innate immune response|ISG15-protein conjugation|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus	cytosol|perinuclear region of cytoplasm	ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity			NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4)	53		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000209)		GGGCCACACTGAGAGTATGGA	0.418000													12	28					0	0	0.411799	0	0
ASL	435	broad.mit.edu	37	7	65557847	65557847	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr7:65557847T>A	ENST00000304874.9	+	17	1445	c.1343T>A	c.(1342-1344)gTc>gAc	p.V448D	ASL_ENST00000395332.3_Missense_Mutation_p.V448D|AC068533.7_ENST00000450043.1_Intron|ASL_ENST00000395331.3_Missense_Mutation_p.V428D|ASL_ENST00000464970.1_3'UTR|ASL_ENST00000380839.4_Missense_Mutation_p.V422D	NM_000048.3	NP_000039.2	P04424	ARLY_HUMAN	argininosuccinate lyase	448					arginine biosynthetic process via ornithine|arginine catabolic process|urea cycle	cytosol	argininosuccinate lyase activity			breast(3)|endometrium(3)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	18					L-Arginine(DB00125)	CGCTCCAGCGTCGACTGGCAG	0.677000													14	63					0	0	0.457914	0	0
VHL	7428	broad.mit.edu	37	3	10188245	10188245	+	Missense_Mutation	SNP	G	G	T	rs104893830		TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr3:10188245G>T	ENST00000256474.2	+	2	1228	c.388G>T	c.(388-390)Gtt>Ttt	p.V130F	VHL_ENST00000477538.1_3'UTR|VHL_ENST00000345392.2_Intron	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	130	Involved in binding to CCT complex.		V -> L (in ECYT2 and VHLD; type I).		anti-apoptosis|cell morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell differentiation|positive regulation of transcription, DNA-dependent|protein stabilization|protein ubiquitination|proteolysis	cytosol|endoplasmic reticulum|membrane|mitochondrion|nucleus	protein binding|transcription factor binding	p.V130L(9)|p.V130>F(1)|p.V130F(1)|p.H125fs*27(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		TGGGCTTCTGGTTAACCAAAC	0.463000		1	"""D, Mis, N, F, S"""		"""renal, hemangioma, pheochromocytoma"""	"""renal, hemangioma, pheochromocytoma"""			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia				66	166					3.86002e-21	4.7242e-21	0.870114	1	0
ZFPM1	161882	broad.mit.edu	37	16	88599110	88599110	+	Silent	SNP	G	G	A			TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr16:88599110G>A	ENST00000319555.3	+	8	1357	c.1035G>A	c.(1033-1035)acG>acA	p.T345T		NM_153813.2	NP_722520.2	Q8IX07	FOG1_HUMAN	zinc finger protein, FOG family member 1	345					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|transcription factor binding|zinc ion binding			central_nervous_system(1)|ovary(2)|urinary_tract(1)	4				BRCA - Breast invasive adenocarcinoma(80;0.0478)		ACACGGACACGCTGAGCGGTA	0.692000													6	16					0	0	0.307466	0	0
MUC16	94025	broad.mit.edu	37	19	9062202	9062202	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr19:9062202G>C	ENST00000397910.4	-	3	25447	c.25244C>G	c.(25243-25245)aCt>aGt	p.T8415S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8417	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CAATCCAGAAGTCAGGGAGGA	0.517000													26	96					0	0	0.681144	0	0
IGLV3-25	28793	broad.mit.edu	37	22	23029638	23029638	+	RNA	SNP	C	C	A			TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr22:23029638C>A	ENST00000390305.2	+	0	283																											CTGAGCGATTCTCTGGCTCCA	0.522000													18	54					1.67942e-08	1.91267e-08	0.539581	1	0
ATR	545	broad.mit.edu	37	3	142177892	142177892	+	Missense_Mutation	SNP	G	G	T	rs150286172	byFrequency	TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr3:142177892G>T	ENST00000350721.4	-	44	7532	c.7411C>A	c.(7411-7413)Ctg>Atg	p.L2471M	ATR_ENST00000383101.3_Missense_Mutation_p.L2407M	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	2471	PI3K/PI4K.				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						CCAAGCCCCAGAATATAACCA	0.373000								Other conserved DNA damage response genes					24	79					1.10923e-09	1.31822e-09	0.639603	1	0
WDFY3	23001	broad.mit.edu	37	4	85724573	85724573	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr4:85724573T>C	ENST00000322366.6	-	16	2884	c.2477A>G	c.(2476-2478)aAt>aGt	p.N826S	WDFY3_ENST00000295888.4_Missense_Mutation_p.N826S|WDFY3-AS1_ENST00000510449.1_RNA|WDFY3_ENST00000512267.1_5'UTR			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	826						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		GTCGGCAACATTTTTAGGAGG	0.413000													4	106					0	0	0.184627	0	0
SLC26A1	10861	broad.mit.edu	37	4	982680	982680	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr4:982680C>T	ENST00000361661.2	-	4	2424	c.2047G>A	c.(2047-2049)Gcc>Acc	p.A683T	SLC26A1_ENST00000398516.2_Missense_Mutation_p.A683T|SLC26A1_ENST00000398520.2_Intron|IDUA_ENST00000509744.1_Intron|IDUA_ENST00000453894.1_Intron|IDUA_ENST00000247933.4_Intron	NM_213613.2	NP_998778.1	Q9H2B4	S26A1_HUMAN	solute carrier family 26 (anion exchanger), member 1	683	STAS.					integral to membrane|plasma membrane	secondary active sulfate transmembrane transporter activity			central_nervous_system(1)|endometrium(4)|pancreas(1)|prostate(1)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			GTCTGCACGGCATCGTGCACA	0.682000													3	14					0	0	0.115264	0	0
SLC47A1	55244	broad.mit.edu	37	17	19452976	19452976	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr17:19452976A>T	ENST00000270570.4	+	5	570	c.484A>T	c.(484-486)Att>Ttt	p.I162F	SLC47A1_ENST00000571335.1_Silent_p.S13S|SLC47A1_ENST00000584348.1_3'UTR|SLC47A1_ENST00000395585.1_Missense_Mutation_p.I162F|SLC47A1_ENST00000575023.1_Missense_Mutation_p.I162F|SLC47A1_ENST00000436810.2_Missense_Mutation_p.I139F|SLC47A1_ENST00000542886.1_Missense_Mutation_p.I162F|SLC47A1_ENST00000457293.1_Missense_Mutation_p.I162F	NM_018242.2	NP_060712.2	Q96FL8	S47A1_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 1	162						integral to membrane|plasma membrane	drug:hydrogen antiporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)					CACGATCTTCATTCCAGCTCT	0.458000													71	227					0	0	0.870114	0	0
DCTN1	1639	broad.mit.edu	37	2	74594532	74594532	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr2:74594532G>A	ENST00000361874.3	-	19	2517	c.2200C>T	c.(2200-2202)Cac>Tac	p.H734Y	DCTN1_ENST00000409438.1_Missense_Mutation_p.H600Y|DCTN1_ENST00000495643.1_5'UTR|DCTN1_ENST00000409567.3_Missense_Mutation_p.H714Y|DCTN1_ENST00000409868.1_Missense_Mutation_p.H717Y|DCTN1_ENST00000409240.1_Missense_Mutation_p.H697Y|DCTN1_ENST00000407639.2_Missense_Mutation_p.H600Y|DCTN1_ENST00000394003.3_Missense_Mutation_p.H727Y	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	734					cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						TCGGCAAGGTGGATGCTGTAC	0.522000													11	30					0	0	0.457914	0	0
SLC1A6	6511	broad.mit.edu	37	19	15083538	15083538	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr19:15083538G>C	ENST00000598504.1	-	4	1544	c.185C>G	c.(184-186)aCg>aGg	p.T62R	SLC1A6_ENST00000600144.1_Missense_Mutation_p.T62R|SLC1A6_ENST00000544886.2_Missense_Mutation_p.T62R|SLC1A6_ENST00000430939.2_Missense_Mutation_p.D66E|SLC1A6_ENST00000221742.3_Missense_Mutation_p.T62R	NM_001272087.1	NP_001259016.1	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	62					synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42					L-Glutamic Acid(DB00142)	GGCGCTGACCGTCAGCAGAAT	0.627000													3	36					0	0	0.115264	0	0
MLKL	197259	broad.mit.edu	37	16	74725180	74725180	+	Silent	SNP	G	G	A			TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr16:74725180G>A	ENST00000308807.7	-	4	1180	c.717C>T	c.(715-717)agC>agT	p.S239S	MLKL_ENST00000306247.7_Intron	NM_152649.2	NP_689862.1	Q8NB16	MLKL_HUMAN	mixed lineage kinase domain-like	239	Protein kinase.						ATP binding|protein binding|protein kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(6)|skin(1)|stomach(2)	19						cttacgcaatgcTGCCAGCCT	0.428000													118	315					0	0	0.870114	0	0
MDC1	9656	broad.mit.edu	37	6	30680150	30680150	+	Silent	SNP	T	T	C			TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr6:30680150T>C	ENST00000376406.3	-	5	2216	c.1569A>G	c.(1567-1569)acA>acG	p.T523T	MDC1_ENST00000376405.2_Silent_p.T523T|MDC1-AS1_ENST00000442150.1_RNA	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	523	Required for nuclear localization (NLS1).				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						TCTCCACTTGTGTGTTGATGT	0.502000								Other conserved DNA damage response genes					23	75					0	0	0.681144	0	0
HIST1H2BI	8346	broad.mit.edu	37	6	26273395	26273395	+	Silent	SNP	C	C	T			TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr6:26273395C>T	ENST00000377733.2	+	1	252	c.192C>T	c.(190-192)aaC>aaT	p.N64N		NM_003525.2	NP_003516.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bi	64					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(1)|lung(8)|urinary_tract(1)	16						GGATTATGAACTCCTTCGTCA	0.567000													11	293					0	0	0.387290	0	0
CUL9	23113	broad.mit.edu	37	6	43156328	43156328	+	Silent	SNP	G	G	T			TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr6:43156328G>T	ENST00000252050.4	+	8	2139	c.2055G>T	c.(2053-2055)gtG>gtT	p.V685V	CUL9_ENST00000372647.2_Silent_p.V685V|CUL9_ENST00000354495.3_Silent_p.V575V	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	685					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						CAGCGGTCGTGGCCACTGTGC	0.592000													14	36					9.31168e-06	1.04597e-05	0.435327	1	0
PNO1	56902	broad.mit.edu	37	2	68400546	68400546	+	Silent	SNP	T	T	C	rs146981426		TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr2:68400546T>C	ENST00000263657.2	+	6	779	c.688T>C	c.(688-690)Ttg>Ctg	p.L230L		NM_020143.2	NP_064528.1	Q9NRX1	PNO1_HUMAN	partner of NOB1 homolog (S. cerevisiae)	230						nucleolus	RNA binding			endometrium(1)|large_intestine(1)|lung(2)	4						CAACCTAATCTTGGGTAATAG	0.373000													31	103					0	0	0.796494	0	0
KNTC1	9735	broad.mit.edu	37	12	123054258	123054258	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr12:123054258A>C	ENST00000333479.7	+	22	1924	c.1747A>C	c.(1747-1749)Atg>Ctg	p.M583L	KNTC1_ENST00000450485.2_Missense_Mutation_p.M546L	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	583					cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		TGATGTGAAAATGCTGGAGAG	0.363000													30	106					0	0	0.729181	0	0
MUSK	4593	broad.mit.edu	37	9	113549999	113549999	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr9:113549999T>A	ENST00000416899.2	+	12	1910	c.1784T>A	c.(1783-1785)tTc>tAc	p.F595Y	MUSK_ENST00000374448.4_Missense_Mutation_p.F603Y|MUSK_ENST00000374438.1_Missense_Mutation_p.F119Y|MUSK_ENST00000189978.5_Missense_Mutation_p.F603Y			O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	603	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						TATGAACCTTTCACTATGGTG	0.438000													15	44					0	0	0.500413	0	0
UBBP4	23666	broad.mit.edu	37	17	21730916	21730916	+	Missense_Mutation	SNP	G	G	T	rs111245273	by1000genomes	TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr17:21730916G>T	ENST00000584755.1	+	2	615	c.218G>T	c.(217-219)cGg>cTg	p.R73L	UBBP4_ENST00000583708.1_Intron|UBBP4_ENST00000584398.1_Intron|UBBP4_ENST00000578713.1_Missense_Mutation_p.R73L														p.R73L(24)		endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GTCCTGCGTCGGAGAGGTGGT	0.552000													5	82					0.00116845	0.00124432	0.217242	1	0
RABGAP1	23637	broad.mit.edu	37	9	125746779	125746779	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr9:125746779A>G	ENST00000373647.4	+	3	300	c.166A>G	c.(166-168)Agt>Ggt	p.S56G		NM_012197.3	NP_036329.3	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1	56					cell cycle	centrosome|cytosol|microtubule associated complex	Rab GTPase activator activity|tubulin binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						AGGGAATGGAAGTGAACAGCA	0.428000													8	26					0	0	0.278610	0	0
TTN	7273	broad.mit.edu	37	2	179658188	179658188	+	Silent	SNP	T	T	C			TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr2:179658188T>C	ENST00000589042.1	-	9	1703	c.1479A>G	c.(1477-1479)tcA>tcG	p.S493S	TTN_ENST00000342992.6_Silent_p.S493S|TTN_ENST00000460472.2_Silent_p.S493S|TTN_ENST00000359218.5_Silent_p.S493S|TTN_ENST00000360870.5_Silent_p.S493S|TTN_ENST00000342175.6_Silent_p.S493S|TTN_ENST00000591111.1_Silent_p.S493S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	493							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)			CTTTGGTTCTTGATTTTAATT	0.403000													61	173					0	0	0.870114	0	0
ACAN	176	broad.mit.edu	37	15	89391157	89391157	+	Silent	SNP	C	C	T			TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr15:89391157C>T	ENST00000439576.2	+	9	1994	c.1620C>T	c.(1618-1620)agC>agT	p.S540S	ACAN_ENST00000559004.1_Silent_p.S540S|ACAN_ENST00000352105.7_Silent_p.S540S|ACAN_ENST00000561243.1_Silent_p.S540S|ACAN_ENST00000558207.1_Silent_p.S540S	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	540					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CCATTGTGAGCCCCCGGACCC	0.602000													22	64					0	0	0.608945	0	0
LILRB5	10990	broad.mit.edu	37	19	54754843	54754843	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr19:54754843A>G	ENST00000450632.1	-	13	1869	c.1792T>C	c.(1792-1794)Tcc>Ccc	p.S598P	LILRB5_ENST00000449561.2_Intron|LILRB5_ENST00000345866.6_Intron|LILRB5_ENST00000316219.5_Intron			O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	423					cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGGGGTGGGGAGGCCTGGGGG	0.607000													5	47					0	0	0.184627	0	0
EXOC3L1	283849	broad.mit.edu	37	16	67219061	67219061	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr16:67219061C>T	ENST00000314586.6	-	11	1967	c.1727G>A	c.(1726-1728)cGc>cAc	p.R576H		NM_178516.3	NP_848611.2	Q86VI1	EX3L1_HUMAN	exocyst complex component 3-like 1	576					exocytosis|peptide hormone secretion	exocyst|stored secretory granule|transport vesicle				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	21						GTTCCGCACGCGCCAGAAGTC	0.677000													17	53					0	0	0.500413	0	0
PDZD2	23037	broad.mit.edu	37	5	32098517	32098517	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr5:32098517G>A	ENST00000438447.1	+	23	8383	c.7995G>A	c.(7993-7995)atG>atA	p.M2665I	PDZD2_ENST00000282493.3_Missense_Mutation_p.M2665I			O15018	PDZD2_HUMAN	PDZ domain containing 2	2665	PDZ 5.				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						AAGGGACTATGAACCGAGGGG	0.547000													17	71					0	0	0.539581	0	0
INTS6-AS1	100507398	broad.mit.edu	37	13	52035501	52035501	+	RNA	SNP	G	G	A			TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr13:52035501G>A	ENST00000594959.1	+	0	411				INTS6-AS1_ENST00000593429.1_RNA|INTS6-AS1_ENST00000596180.1_RNA|INTS6-AS1_ENST00000594358.1_RNA|INTS6-AS1_ENST00000597745.1_RNA|INTS6-AS1_ENST00000594604.1_RNA|INTS6-AS1_ENST00000596303.1_RNA|INTS6-AS1_ENST00000593709.1_RNA|INTS6-AS1_ENST00000593928.1_RNA|INTS6-AS1_ENST00000598864.1_RNA|INTS6-AS1_ENST00000595997.1_RNA|INTS6-AS1_ENST00000594488.1_RNA|INTS6-AS1_ENST00000602089.1_RNA|INTS6-AS1_ENST00000596050.1_RNA|INTS6-AS1_ENST00000601572.1_RNA|INTS6-AS1_ENST00000595424.1_RNA|INTS6-AS1_ENST00000434512.1_RNA|INTS6-AS1_ENST00000601318.1_RNA|INTS6-AS1_ENST00000595435.1_RNA|INTS6-AS1_ENST00000601034.1_RNA|INTS6-AS1_ENST00000600477.1_RNA|INTS6-AS1_ENST00000593672.1_RNA|INTS6-AS1_ENST00000599315.1_RNA																							AAAATAATGTGGCAAGATTAA	0.408000													4	23					0	0	0.150653	0	0
PRKCD	5580	broad.mit.edu	37	3	53215262	53215262	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr3:53215262C>T	ENST00000394729.2	+	4	683	c.355C>T	c.(355-357)Cag>Tag	p.Q119*	PRKCD_ENST00000330452.3_Nonsense_Mutation_p.Q119*	NM_212539.1	NP_997704.1	Q05655	KPCD_HUMAN	protein kinase C, delta	119					activation of phospholipase C activity|cellular component disassembly involved in apoptosis|cellular senescence|interferon-gamma-mediated signaling pathway|intracellular signal transduction|mRNA metabolic process|negative regulation of insulin receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein binding|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of ceramide biosynthetic process|positive regulation of glucosylceramide catabolic process|positive regulation of protein dephosphorylation|positive regulation of sphingomyelin catabolic process|protein stabilization|regulation of receptor activity|termination of signal transduction	cytosol|endoplasmic reticulum|nucleoplasm	ATP binding|calcium-independent protein kinase C activity|enzyme activator activity|enzyme binding|insulin receptor substrate binding|metal ion binding|protein C-terminus binding			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Ovarian(412;0.0728)		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)		GATGTCTGTTCAGTATTTCCT	0.622000													9	19					0	0	0.335167	0	0
CES1	1066	broad.mit.edu	37	16	55855371	55855371	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr16:55855371C>A	ENST00000422046.2	-	5	880	c.599G>T	c.(598-600)tGg>tTg	p.W200L	CES1_ENST00000566555.1_5'UTR|CES1_ENST00000360526.3_Missense_Mutation_p.W201L|CES1_ENST00000361503.4_Missense_Mutation_p.W200L			P23141	EST1_HUMAN	carboxylesterase 1	200					response to toxin	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity								all cancers(182;0.13)|Epithelial(162;0.137)	Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691)	GTCCTGGACCCAGCGCAGGGC	0.582000													10	81					3.86212e-05	4.16702e-05	0.361761	1	0
VILL	50853	broad.mit.edu	37	3	38038588	38038588	+	Silent	SNP	C	C	T			TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr3:38038588C>T	ENST00000283713.6	+	6	737	c.471C>T	c.(469-471)agC>agT	p.S157S	VILL_ENST00000465644.1_Intron|VILL_ENST00000383759.2_Silent_p.S157S			O15195	VILL_HUMAN	villin-like	157					actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		CCTGGAACAGCTTTAATAAGG	0.542000											OREG0015474	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	31	64					0	0	0.760397	0	0
RERE	473	broad.mit.edu	37	1	8420609	8420609	+	Silent	SNP	T	T	G			TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr1:8420609T>G	ENST00000337907.3	-	19	3592	c.2958A>C	c.(2956-2958)ccA>ccC	p.P986P	RERE_ENST00000377464.1_Silent_p.P718P|RERE_ENST00000400907.2_Intron|RERE_ENST00000476556.1_Silent_p.P432P|RERE_ENST00000400908.2_Silent_p.P986P	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	986	Pro-rich.				multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P986P(4)		central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		GTTGCAGGGGTGGGGGGTGAG	0.706000													8	26					0	0	0.335167	0	0
RNF213	57674	broad.mit.edu	37	17	78350219	78350219	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr17:78350219G>A	ENST00000582970.1	+	52	13447	c.13304G>A	c.(13303-13305)aGt>aAt	p.S4435N	RNF213_ENST00000508628.2_Missense_Mutation_p.S4484N|CTD-2047H16.4_ENST00000575034.1_RNA|CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000336301.6_Missense_Mutation_p.S2508N	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GCGGGGCCTAGTGACAGCAAC	0.498000													51	156					0	0	0.870114	0	0
SRCAP	10847	broad.mit.edu	37	16	30750345	30750345	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr16:30750345C>G	ENST00000262518.4	+	34	9369	c.8984C>G	c.(8983-8985)aCt>aGt	p.T2995S	SRCAP_ENST00000344771.4_Missense_Mutation_p.T2837S|SRCAP_ENST00000395059.2_Missense_Mutation_p.T2933S	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2995	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			ACTGTCACCACTGTCACCATT	0.602000													17	58					0	0	0.520397	0	0
DNAH9	1770	broad.mit.edu	37	17	11778481	11778481	+	Silent	SNP	C	C	A			TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr17:11778481C>A	ENST00000262442.3	+	53	10526	c.10458C>A	c.(10456-10458)gtC>gtA	p.V3486V	DNAH9_ENST00000454412.2_Silent_p.V3486V|RP11-628O18.1_ENST00000579621.1_RNA	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3486	AAA 5 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		ATCTCCGGGTCACGCAGATTG	0.458000													9	46					0.00448238	0.00471225	0.307466	1	0
ESR2	2100	broad.mit.edu	37	14	64716381	64716381	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr14:64716381C>T	ENST00000557772.1	-	6	1107	c.1108G>A	c.(1108-1110)Gta>Ata	p.V370I	ESR2_ENST00000353772.3_Missense_Mutation_p.V370I|ESR2_ENST00000341099.4_Missense_Mutation_p.V370I|ESR2_ENST00000267525.6_Intron|ESR2_ENST00000555278.1_Missense_Mutation_p.V370I|ESR2_ENST00000553796.1_Missense_Mutation_p.V370I|ESR2_ENST00000542956.1_Missense_Mutation_p.V370I|ESR2_ENST00000358599.5_Missense_Mutation_p.V370I|ESR2_ENST00000554572.1_Missense_Mutation_p.V370I|ESR2_ENST00000555483.1_5'UTR|ESR2_ENST00000357782.2_Missense_Mutation_p.V370I	NM_001214903.1	NP_001201832.1	Q92731	ESR2_HUMAN	estrogen receptor 2 (ER beta)	370	Steroid-binding.				cell-cell signaling|negative regulation of cell growth|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	mitochondrion|nucleoplasm	enzyme binding|estrogen receptor activity|receptor antagonist activity|sequence-specific DNA binding transcription factor activity|steroid binding|transcription coactivator activity|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	23				all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	Bicalutamide(DB01128)|Estradiol(DB00783)|Estramustine(DB01196)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)	ATTCCTTCTACGCATTTCCCC	0.363000													5	101					0	0	0.184627	0	0
ANKMY1	51281	broad.mit.edu	37	2	241439472	241439472	+	Silent	SNP	C	C	T			TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr2:241439472C>T	ENST00000391987.1	-	15	2808	c.2442G>A	c.(2440-2442)cgG>cgA	p.R814R	ANKMY1_ENST00000401804.1_Silent_p.R903R|ANKMY1_ENST00000373318.2_Silent_p.R593R|ANKMY1_ENST00000373320.4_Silent_p.R584R|ANKMY1_ENST00000361678.4_Silent_p.R590R|ANKMY1_ENST00000272972.3_Silent_p.R814R|ANKMY1_ENST00000406958.1_Silent_p.R575R|ANKMY1_ENST00000403283.1_Silent_p.R716R			Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	814							zinc ion binding			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		GGAGCCGCTTCCGCGCCAGGA	0.652000													4	12					0	0	0.217242	0	0
SPG11	80208	broad.mit.edu	37	15	44876035	44876035	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr15:44876035A>G	ENST00000261866.7	-	30	5859	c.5843T>C	c.(5842-5844)aTt>aCt	p.I1948T	SPG11_ENST00000535302.2_Missense_Mutation_p.I1948T|SPG11_ENST00000558319.1_Missense_Mutation_p.I1948T|SPG11_ENST00000427534.2_Missense_Mutation_p.I1948T	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	1948					cell death	cytosol|integral to membrane|nucleus	protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		CCTTAGGGGAATGTCGGGTGC	0.527000													23	80					0	0	0.706142	0	0
OIP5	11339	broad.mit.edu	37	15	41624695	41624695	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr15:41624695C>A	ENST00000220514.3	-	1	124	c.65G>T	c.(64-66)gGt>gTt	p.G22V		NM_007280.1	NP_009211.1	O43482	MS18B_HUMAN	Opa interacting protein 5	22					cell communication|cell division|CenH3-containing nucleosome assembly at centromere|mitosis	Cajal body|chromatin|chromosome, centromeric region	protein binding			endometrium(3)|lung(1)|urinary_tract(1)	5		all_cancers(109;4.16e-14)|all_epithelial(112;7.09e-12)|Lung NSC(122;1.14e-09)|all_lung(180;2.56e-08)|Melanoma(134;0.091)|Colorectal(260;0.175)		OV - Ovarian serous cystadenocarcinoma(18;1.49e-16)|GBM - Glioblastoma multiforme(113;1.29e-06)|BRCA - Breast invasive adenocarcinoma(123;0.163)		CTCAGTGCCACCACAAAAGTC	0.652000													28	79					8.53417e-09	9.99718e-09	0.769981	1	0
CUL7	9820	broad.mit.edu	37	6	43018715	43018715	+	Silent	SNP	A	A	G			TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr6:43018715A>G	ENST00000535468.1	-	4	1562	c.1476T>C	c.(1474-1476)ccT>ccC	p.P492P	CUL7_ENST00000265348.3_Silent_p.P408P	NM_001168370.1|NM_014780.4	NP_001161842.1|NP_055595.2	Q14999	CUL7_HUMAN	cullin 7	408					interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			CCTGCACAGGAGGCACACCGT	0.597000													20	60					0	0	0.624587	0	0
CILP	8483	broad.mit.edu	37	15	65491129	65491129	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr15:65491129C>A	ENST00000261883.4	-	9	1661	c.1495G>T	c.(1495-1497)Gct>Tct	p.A499S		NM_003613.3	NP_003604.3	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	499					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						CCATTGTCAGCAGCACTGACA	0.607000													5	51					1.23904e-05	1.37299e-05	0.184627	1	0
MT1H	4496	broad.mit.edu	37	16	56704457	56704457	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr16:56704457A>G	ENST00000569155.1	+	2	113	c.68A>G	c.(67-69)aAg>aGg	p.K23R	MT1H_ENST00000332374.4_Missense_Mutation_p.K23R			P80294	MT1H_HUMAN	metallothionein 1H	23	Beta.						metal ion binding|protein binding			lung(5)	5						AAGTGCAAAAAGTGCAAATGC	0.567000													21	67					0	0	0.608945	0	0
COPB2	9276	broad.mit.edu	37	3	139090593	139090593	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr3:139090593C>T	ENST00000333188.5	-	10	1358	c.1177G>A	c.(1177-1179)Gag>Aag	p.E393K	COPB2_ENST00000507777.1_Missense_Mutation_p.E364K	NM_004766.2	NP_004757.1	P35606	COPB2_HUMAN	coatomer protein complex, subunit beta 2 (beta prime)	393					COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	24						CATGCAAACTCCTGAGCAGAT	0.458000													25	85					0	0	0.681144	0	0
TIE1	7075	broad.mit.edu	37	1	43782949	43782949	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr1:43782949G>C	ENST00000372476.3	+	15	2568	c.2489G>C	c.(2488-2490)aGc>aCc	p.S830T	TIE1_ENST00000473014.1_3'UTR|TIE1_ENST00000433781.2_Missense_Mutation_p.S475T	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	830					mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GAGCCCCTGAGCTACCCAGTG	0.602000													18	66					0	0	0.667858	0	0
GP6	51206	broad.mit.edu	37	19	55539166	55539166	+	Silent	SNP	T	T	A	rs115934645	by1000genomes	TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr19:55539166T>A	ENST00000310373.3	-	4	417	c.390A>T	c.(388-390)gtA>gtT	p.V130V	CTC-550B14.7_ENST00000586845.1_RNA|GP6_ENST00000333884.2_Silent_p.V130V|GP6_ENST00000417454.1_Silent_p.V130V|CTC-550B14.7_ENST00000593060.1_RNA|CTC-550B14.6_ENST00000585492.1_RNA|CTC-550B14.7_ENST00000586961.1_RNA	NM_001083899.1	NP_001077368.1	Q9HCN6	GPVI_HUMAN	glycoprotein VI (platelet)	130	Ig-like C2-type 2.				enzyme linked receptor protein signaling pathway|leukocyte migration|platelet activation	integral to plasma membrane	collagen binding|transmembrane receptor activity			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19			BRCA - Breast invasive adenocarcinoma(297;0.156)	GBM - Glioblastoma multiforme(193;0.0515)		ACTGTAGGGTTACGTCCCCTC	0.557000													10	232					0	0	0.387290	0	0
COL11A1	1301	broad.mit.edu	37	1	103474038	103474039	+	Frame_Shift_Ins	INS	-	-	T	rs149894788		TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr1:103474038_103474039insT	ENST00000358392.2	-	15	2016_2017	c.1699_1700insA	c.(1699-1701)tggfs	p.W567fs	COL11A1_ENST00000353414.4_Frame_Shift_Ins_p.W516fs|COL11A1_ENST00000370096.3_Frame_Shift_Ins_p.W555fs|COL11A1_ENST00000461720.1_5'UTR|COL11A1_ENST00000512756.1_Frame_Shift_Ins_p.W439fs	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	555	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TGGATCACCACTCTCACCTTTG	0.376													41	137	---	---	---	---					
XIRP2	129446	broad.mit.edu	37	2	168115152	168115156	+	Frame_Shift_Del	DEL	ATCAT	ATCAT	-			TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr2:168115152_168115156delATCAT	ENST00000409728.1	+	11	2284_2288	c.2195_2199delATCAT	c.(2194-2199)afs	p.NH732fs	XIRP2_ENST00000409195.1_3'UTR|XIRP2_ENST00000409756.2_Frame_Shift_Del_p.NH699fs|XIRP2_ENST00000295237.9_3'UTR|XIRP2_ENST00000409605.1_Frame_Shift_Del_p.NH477fs|XIRP2_ENST00000409043.1_Frame_Shift_Del_p.NH699fs|XIRP2_ENST00000420519.1_Frame_Shift_Del_p.NH732fs|XIRP2_ENST00000409273.1_3'UTR	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	0					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						ATGCCAGAAAATCATAAAGAAAATT	0.307													15	76	---	---	---	---					
CUL3	8452	broad.mit.edu	37	2	225360644	225360645	+	Frame_Shift_Ins	INS	-	-	TA			TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr2:225360644_225360645insTA	ENST00000264414.4	-	13	2084_2085	c.1746_1747insTA	c.(1744-1749)gtctggfs	p.W583fs	CUL3_ENST00000409777.1_Frame_Shift_Ins_p.W559fs|CUL3_ENST00000409096.1_Frame_Shift_Ins_p.W559fs|CUL3_ENST00000344951.4_Frame_Shift_Ins_p.W517fs	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN	cullin 3	583					cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule	ubiquitin protein ligase binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		TTAGAGCCAGTTACTTGTGCAC	0.332													36	164	---	---	---	---					
RP11-6N13.1	0	broad.mit.edu	37	5	103837966	103837969	+	RNA	DEL	TCTC	TCTC	-	rs138155987		TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr5:103837966_103837969delTCTC	ENST00000503650.1	-	0	328																											ttcttttctttctctctctctctc	0.348													3	3	---	---	---	---					
MUC17	140453	broad.mit.edu	37	7	100696355	100696355	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr7:100696355delG	ENST00000306151.4	+	10	13256	c.13192delG	c.(13192-13194)ggfs	p.G4398fs		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	4398						extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CGTGGGGGCAGGGGTCGTGCT	0.592													19	69	---	---	---	---					
TRBV7-1	28597	broad.mit.edu	37	7	142032162	142032163	+	RNA	DEL	GA	GA	-			TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr7:142032162_142032163delGA	ENST00000547918.2	+	0	82																											atgtgtgtgtgAGAGAGAGAGA	0.505													4	8	---	---	---	---					
PLEKHA7	144100	broad.mit.edu	37	11	16822525	16822525	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr11:16822525delA	ENST00000355661.3	-	17	2415	c.2405delT	c.(2404-2406)tcfs	p.F802fs	PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000531066.1_Frame_Shift_Del_p.F802fs|PLEKHA7_ENST00000448080.2_Frame_Shift_Del_p.F802fs			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	802					epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						GGTCACCTGGAAAAAAAAGGC	0.443													7	251	---	---	---	---					
LOC101928989	101928989	broad.mit.edu	37	11	81642004	81642005	+	RNA	DEL	TA	TA	-			TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr11:81642004_81642005delTA	ENST00000500502.1	-	0	940																											cctttgtgtgtatttgtgtgtg	0.327													2	4	---	---	---	---					
RP5-944M2.3	0	broad.mit.edu	37	12	126944190	126944191	+	RNA	INS	-	-	A	rs11267870		TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr12:126944190_126944191insA	ENST00000397346.3	+	0	1031																											gaaagagaaagaaagaaagaaa	0.351													2	4	---	---	---	---					
RP11-208K4.1	0	broad.mit.edu	37	15	48198789	48198790	+	RNA	DEL	AC	AC	-			TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr15:48198789_48198790delAC	ENST00000560900.1	+	0	195																											tttcttgcttacacacacacac	0.351													3	4	---	---	---	---					
BCL2L10	10017	broad.mit.edu	37	15	52402170	52402170	+	Splice_Site	DEL	C	C	-			TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr15:52402170delC	ENST00000260442.3	-	2	538	c.489_splice	c.e2-1	p.D164_splice	BCL2L10_ENST00000561198.1_Splice_Site_p.G187_splice	NM_020396.2	NP_065129.1	Q9HD36	B2L10_HUMAN	BCL2-like 10 (apoptosis facilitator)	154					activation of caspase activity|anti-apoptosis|female gamete generation|spermatogenesis	cytosol|integral to membrane|membrane fraction|mitochondrion|nuclear membrane	protein binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)	2				all cancers(107;0.0148)		CAAAAGCCATCCTACAGGGGG	0.453													24	105	---	---	---	---					
UBE2Q2P2	100134869	broad.mit.edu	37	15	83040943	83040944	+	RNA	INS	-	-	T			TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr15:83040943_83040944insT	ENST00000558477.1	+	0	233					NR_004847.2																						GAACAAAAATCTTTTTTTTTTT	0.312													3	5	---	---	---	---					
RP11-396B14.2	0	broad.mit.edu	37	16	11316747	11316748	+	RNA	INS	-	-	AGAAAGAGAG	rs138552076	by1000genomes	TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr16:11316747_11316748insAGAAAGAGAG	ENST00000572466.1	+	0	186																		p.0?(1)									caaaaaaagaaagagagagaga	0.465													2	4	---	---	---	---					
BAGE2	85319	broad.mit.edu	37	21	11058603	11058603	+	RNA	DEL	G	G	-	rs57429001		TCGA-BP-4965-01A-01D-1462-08	TCGA-BP-4965-11A-01D-1462-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96b01dbc-0333-4215-acd5-c3b91278f86c	3fbf9388-6996-471b-8df8-ff21e961d894	g.chr21:11058603delG	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AAAACCTAAAGATTTTTTTTT	0.269													3	3	---	---	---	---					
