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
PRMT8	56341	broad.mit.edu	37	12	3649787	3649787	+	Missense_Mutation	SNP	T	T	C			TCGA-V4-A9EI-01A-11D-A39W-08	TCGA-V4-A9EI-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbc5b1a0-ba7f-4de1-98ad-79c87040179c	5b7ee91e-13aa-4179-8d86-0d94352047f8	g.chr12:3649787T>C	ENST00000382622.3	+	2	481	c.91T>C	c.(91-93)Tcc>Ccc	p.S31P	PRMT8_ENST00000452611.2_Missense_Mutation_p.S22P|PRMT8_ENST00000261252.4_3'UTR	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	protein arginine methyltransferase 8	31					regulation of protein binding	cytoplasm|plasma membrane	histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			CAGCCCCCCCTCCCAGCCCCC	0.652000													6	30					0	0	1	0	0
BTBD7	55727	broad.mit.edu	37	14	93760636	93760636	+	Missense_Mutation	SNP	T	T	G			TCGA-V4-A9EI-01A-11D-A39W-08	TCGA-V4-A9EI-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbc5b1a0-ba7f-4de1-98ad-79c87040179c	5b7ee91e-13aa-4179-8d86-0d94352047f8	g.chr14:93760636T>G	ENST00000334746.5	-	3	1037	c.730A>C	c.(730-732)Atg>Ctg	p.M244L	BTBD7_ENST00000298896.3_Missense_Mutation_p.M244L|BTBD7_ENST00000555525.1_Missense_Mutation_p.M244L|BTBD7_ENST00000554565.1_Intron	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	244										breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		TAATAACACATGTAATCAAAG	0.388000													37	47					0	0	1	0	0
NRXN1	9378	broad.mit.edu	37	2	51255230	51255230	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9EI-01A-11D-A39W-08	TCGA-V4-A9EI-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbc5b1a0-ba7f-4de1-98ad-79c87040179c	5b7ee91e-13aa-4179-8d86-0d94352047f8	g.chr2:51255230C>T	ENST00000404971.1	-	2	1521	c.182G>A	c.(181-183)cGc>cAc	p.R61H	NRXN1_ENST00000406316.2_Missense_Mutation_p.R61H|NRXN1_ENST00000405581.1_Missense_Mutation_p.R61H|NRXN1_ENST00000401669.2_Missense_Mutation_p.R61H|NRXN1_ENST00000405472.3_Missense_Mutation_p.R61H|NRXN1_ENST00000406859.3_Missense_Mutation_p.R61H|NRXN1_ENST00000402717.3_Missense_Mutation_p.R61H	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	61	Laminin G-like 1.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GCGGGCGCTGCGAGTCTTGAG	0.672000													11	16					0	0	1	0	0
PER1	5187	broad.mit.edu	37	17	8044505	8044505	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9EI-01A-11D-A39W-08	TCGA-V4-A9EI-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbc5b1a0-ba7f-4de1-98ad-79c87040179c	5b7ee91e-13aa-4179-8d86-0d94352047f8	g.chr17:8044505C>T	ENST00000317276.4	-	23	3991	c.3754G>A	c.(3754-3756)Gag>Aag	p.E1252K	PER1_ENST00000581082.1_Missense_Mutation_p.E1229K	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	1252	CRY binding domain (By similarity).				circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						TGGGCCTCCTCGCAGCCCTCT	0.637000			T	ETV6	"""AML, CMML"""			Other conserved DNA damage response genes					59	14					0	0	1	0	0
UTP14C	9724	broad.mit.edu	37	13	52605146	52605146	+	Missense_Mutation	SNP	G	G	T			TCGA-V4-A9EI-01A-11D-A39W-08	TCGA-V4-A9EI-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbc5b1a0-ba7f-4de1-98ad-79c87040179c	5b7ee91e-13aa-4179-8d86-0d94352047f8	g.chr13:52605146G>T	ENST00000521776.2	+	2	2939	c.2206G>T	c.(2206-2208)Gtg>Ttg	p.V736L		NM_021645.5	NP_067677.4	Q5TAP6	UT14C_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast)	736					cell differentiation|meiosis|multicellular organismal development|rRNA processing|spermatogenesis	nucleolus|small-subunit processome				breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	32		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.3e-08)		AGCAGAGGATGTGGGCTACCA	0.478000													49	56					1.61004e-24	1.65355e-24	1	1	0
GNA11	2767	broad.mit.edu	37	19	3118942	3118942	+	Missense_Mutation	SNP	A	A	T			TCGA-V4-A9EI-01A-11D-A39W-08	TCGA-V4-A9EI-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbc5b1a0-ba7f-4de1-98ad-79c87040179c	5b7ee91e-13aa-4179-8d86-0d94352047f8	g.chr19:3118942A>T	ENST00000078429.4	+	5	868	c.626A>T	c.(625-627)cAg>cTg	p.Q209L	GNA11_ENST00000586180.1_3'UTR|AC005262.3_ENST00000587701.1_RNA	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)	209					activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	p.Q209L(80)|p.Q209P(2)		endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		GTGGGGGGCCAGCGGTCGGAG	0.612000			Mis		uveal melanoma								18	27					0	0	1	0	0
POLK	51426	broad.mit.edu	37	5	74892575	74892575	+	Missense_Mutation	SNP	A	A	C			TCGA-V4-A9EI-01A-11D-A39W-08	TCGA-V4-A9EI-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbc5b1a0-ba7f-4de1-98ad-79c87040179c	5b7ee91e-13aa-4179-8d86-0d94352047f8	g.chr5:74892575A>C	ENST00000241436.4	+	13	2229	c.2057A>C	c.(2056-2058)tAt>tCt	p.Y686S	POLK_ENST00000504026.1_Intron|POLK_ENST00000506928.1_3'UTR|POLK_ENST00000508526.1_Missense_Mutation_p.Y488S|POLK_ENST00000352007.5_Missense_Mutation_p.Y488S|POLK_ENST00000380481.3_Missense_Mutation_p.Y596S	NM_016218.2	NP_057302.1	Q9UBT6	POLK_HUMAN	polymerase (DNA directed) kappa	686					DNA replication|nucleotide-excision repair, DNA gap filling	nucleus	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding			endometrium(1)|kidney(4)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	27		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)		AAGCAAGATTATGAAGCCCAT	0.318000								DNA polymerases (catalytic subunits)					7	18					0	0	1	0	0
PDXDC1	23042	broad.mit.edu	37	16	15102697	15102697	+	Missense_Mutation	SNP	A	A	T			TCGA-V4-A9EI-01A-11D-A39W-08	TCGA-V4-A9EI-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbc5b1a0-ba7f-4de1-98ad-79c87040179c	5b7ee91e-13aa-4179-8d86-0d94352047f8	g.chr16:15102697A>T	ENST00000396410.4	+	7	738	c.641A>T	c.(640-642)cAt>cTt	p.H214L	PDXDC1_ENST00000450288.2_Missense_Mutation_p.H186L|PDXDC1_ENST00000563679.1_Missense_Mutation_p.H232L|PDXDC1_ENST00000455313.2_Intron|PDXDC1_ENST00000447912.2_Missense_Mutation_p.H123L|PDXDC1_ENST00000569715.1_Missense_Mutation_p.H187L|PDXDC1_ENST00000325823.7_Missense_Mutation_p.H199L|PDXDC1_ENST00000535621.2_Missense_Mutation_p.H214L	NM_015027.2	NP_055842.2	Q6P996	PDXD1_HUMAN	pyridoxal-dependent decarboxylase domain containing 1	214					carboxylic acid metabolic process		carboxy-lyase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(10)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	GGATCCCAGCATCAGATGGTG	0.438000													29	151					0	0	1	0	0
OR4M2	390538	broad.mit.edu	37	15	22368716	22368716	+	Silent	SNP	C	C	T	rs148996699		TCGA-V4-A9EI-01A-11D-A39W-08	TCGA-V4-A9EI-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbc5b1a0-ba7f-4de1-98ad-79c87040179c	5b7ee91e-13aa-4179-8d86-0d94352047f8	g.chr15:22368716C>T	ENST00000332663.2	+	1	239	c.141C>T	c.(139-141)tgC>tgT	p.C47C	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	47					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TTATCATTTGCACCATCAGTC	0.423000													4	211					0	0	1	0	0
RP11-798G7.5	0	broad.mit.edu	37	17	43587576	43587576	+	RNA	SNP	A	A	G	rs145439557	by1000genomes	TCGA-V4-A9EI-01A-11D-A39W-08	TCGA-V4-A9EI-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbc5b1a0-ba7f-4de1-98ad-79c87040179c	5b7ee91e-13aa-4179-8d86-0d94352047f8	g.chr17:43587576A>G	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							tctgaaaagaaaagaaaaaaa	0.428000													4	30					0	0	1	0	0
GAB2	9846	broad.mit.edu	37	11	77937662	77937662	+	Silent	SNP	T	T	G			TCGA-V4-A9EI-01A-11D-A39W-08	TCGA-V4-A9EI-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbc5b1a0-ba7f-4de1-98ad-79c87040179c	5b7ee91e-13aa-4179-8d86-0d94352047f8	g.chr11:77937662T>G	ENST00000361507.4	-	4	1141	c.1056A>C	c.(1054-1056)ccA>ccC	p.P352P	GAB2_ENST00000340149.2_Silent_p.P314P	NM_080491.2	NP_536739.1	Q9UQC2	GAB2_HUMAN	GRB2-associated binding protein 2	352					osteoclast differentiation|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mast cell degranulation	cytosol|plasma membrane	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|transmembrane receptor protein tyrosine kinase adaptor activity		INTS4/GAB2(2)	NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)			GGGGGCGGGGTGGGGGAGCTA	0.582000													4	35					0	0	1	0	0
ZNF20	7568	broad.mit.edu	37	19	12244189	12244189	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9EI-01A-11D-A39W-08	TCGA-V4-A9EI-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbc5b1a0-ba7f-4de1-98ad-79c87040179c	5b7ee91e-13aa-4179-8d86-0d94352047f8	g.chr19:12244189C>T	ENST00000334213.5	-	4	1036	c.812G>A	c.(811-813)cGt>cAt	p.R271H	ZNF20_ENST00000600335.1_Intron|ZNF625-ZNF20_ENST00000430024.1_3'UTR	NM_001203250.1|NM_021143.3	NP_001190179.1|NP_066966.2	P17024	ZNF20_HUMAN	zinc finger protein 20	271					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|lung(6)	8						TTTATGTCTACGAATTTCACT	0.398000													19	32					0	0	1	0	0
NIN	51199	broad.mit.edu	37	14	51243678	51243678	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9EI-01A-11D-A39W-08	TCGA-V4-A9EI-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbc5b1a0-ba7f-4de1-98ad-79c87040179c	5b7ee91e-13aa-4179-8d86-0d94352047f8	g.chr14:51243678C>T	ENST00000245441.5	-	7	845	c.655G>A	c.(655-657)Gtg>Atg	p.V219M	NIN_ENST00000389868.3_Missense_Mutation_p.V219M|NIN_ENST00000324330.9_Missense_Mutation_p.V219M|NIN_ENST00000382043.4_Missense_Mutation_p.V219M|NIN_ENST00000530997.2_Missense_Mutation_p.V219M|NIN_ENST00000382041.3_Missense_Mutation_p.V219M|NIN_ENST00000453196.1_Missense_Mutation_p.V219M	NM_020921.3	NP_065972	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	219	EF-hand 4.				centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					TCTCCATCCACATTCTGTAAA	0.463000			T	PDGFRB	MPD								45	64					0	0	1	0	0
HMGN2P46	0	broad.mit.edu	37	15	45848230	45848230	+	RNA	SNP	C	C	T			TCGA-V4-A9EI-01A-11D-A39W-08	TCGA-V4-A9EI-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbc5b1a0-ba7f-4de1-98ad-79c87040179c	5b7ee91e-13aa-4179-8d86-0d94352047f8	g.chr15:45848230C>T	ENST00000409454.1	+	0	1225																											TTTTGTTTAGCTTTTTTTTTT	0.318000													4	12					0	0	1	0	0
SBNO2	22904	broad.mit.edu	37	19	1119013	1119013	+	Silent	SNP	C	C	T			TCGA-V4-A9EI-01A-11D-A39W-08	TCGA-V4-A9EI-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbc5b1a0-ba7f-4de1-98ad-79c87040179c	5b7ee91e-13aa-4179-8d86-0d94352047f8	g.chr19:1119013C>T	ENST00000361757.3	-	14	1761	c.1524G>A	c.(1522-1524)ctG>ctA	p.L508L	SBNO2_ENST00000438103.2_Silent_p.L451L|SBNO2_ENST00000587024.1_Silent_p.L508L	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 (Drosophila)	508					macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent					NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		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)		GGCTCACCAGCAGGGCCGCGC	0.667000													3	6					0	0	1	0	0
NACA	4666	broad.mit.edu	37	12	57113207	57113207	+	Missense_Mutation	SNP	T	T	G			TCGA-V4-A9EI-01A-11D-A39W-08	TCGA-V4-A9EI-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbc5b1a0-ba7f-4de1-98ad-79c87040179c	5b7ee91e-13aa-4179-8d86-0d94352047f8	g.chr12:57113207T>G	ENST00000454682.1	-	3	2388	c.2107A>C	c.(2107-2109)Aca>Cca	p.T703P	NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000552540.1_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						TCTGAAGCTGTAGGAACCAAG	0.493000			T	BCL6	NHL								15	15					0	0	1	0	0
ANKRD27	84079	broad.mit.edu	37	19	33137370	33137370	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9EI-01A-11D-A39W-08	TCGA-V4-A9EI-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbc5b1a0-ba7f-4de1-98ad-79c87040179c	5b7ee91e-13aa-4179-8d86-0d94352047f8	g.chr19:33137370C>T	ENST00000306065.4	-	4	523	c.365G>A	c.(364-366)aGt>aAt	p.S122N	ANKRD27_ENST00000587352.1_Missense_Mutation_p.S122N	NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	122					early endosome to late endosome transport	early endosome|lysosome	GTPase activator activity|guanyl-nucleotide exchange factor activity			breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					AATACCTGAACTCTCTCTCTT	0.388000													19	63					0	0	1	0	0
OR4K1	79544	broad.mit.edu	37	14	20404381	20404381	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9EI-01A-11D-A39W-08	TCGA-V4-A9EI-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbc5b1a0-ba7f-4de1-98ad-79c87040179c	5b7ee91e-13aa-4179-8d86-0d94352047f8	g.chr14:20404381G>A	ENST00000285600.4	+	1	615	c.556G>A	c.(556-558)Gag>Aag	p.E186K		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	186					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		CTTGGTGATAGAGCTGGCTTG	0.443000													47	46					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237947564	237947564	+	Silent	SNP	G	G	A			TCGA-V4-A9EI-01A-11D-A39W-08	TCGA-V4-A9EI-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbc5b1a0-ba7f-4de1-98ad-79c87040179c	5b7ee91e-13aa-4179-8d86-0d94352047f8	g.chr1:237947564G>A	ENST00000366574.2	+	90	12869	c.12552G>A	c.(12550-12552)gaG>gaA	p.E4184E	RYR2_ENST00000542537.1_Silent_p.E4168E|RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000360064.6_Silent_p.E4190E	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4184					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)			GAGAGAAAGAGAAGATGGAAC	0.507000													31	44					0	0	1	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102498624	102498624	+	Missense_Mutation	SNP	A	A	G			TCGA-V4-A9EI-01A-11D-A39W-08	TCGA-V4-A9EI-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbc5b1a0-ba7f-4de1-98ad-79c87040179c	5b7ee91e-13aa-4179-8d86-0d94352047f8	g.chr14:102498624A>G	ENST00000360184.4	+	52	10063	c.9899A>G	c.(9898-9900)aAg>aGg	p.K3300R		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	3300	Stalk (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						AAGTCGATCAAGAAGCAGCAC	0.572000													74	203					0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	138208465	138208465	+	Missense_Mutation	SNP	A	A	C			TCGA-V4-A9EI-01A-11D-A39W-08	TCGA-V4-A9EI-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbc5b1a0-ba7f-4de1-98ad-79c87040179c	5b7ee91e-13aa-4179-8d86-0d94352047f8	g.chr2:138208465A>C	ENST00000409968.1	+	15	3188	c.3010A>C	c.(3010-3012)Agc>Cgc	p.S1004R	THSD7B_ENST00000272643.3_Missense_Mutation_p.S1004R|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000413152.2_Missense_Mutation_p.S973R					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		TTGCAAGTTAAGCGATTGGTC	0.388000													5	29					0	0	1	0	0
SPDL1	54908	broad.mit.edu	37	5	169015526	169015526	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9EI-01A-11D-A39W-08	TCGA-V4-A9EI-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbc5b1a0-ba7f-4de1-98ad-79c87040179c	5b7ee91e-13aa-4179-8d86-0d94352047f8	g.chr5:169015526G>A	ENST00000265295.4	+	2	385	c.106G>A	c.(106-108)Gaa>Aaa	p.E36K	SPDL1_ENST00000510751.1_3'UTR	NM_017785.4	NP_060255.3			spindle apparatus coiled-coil protein 1																		GAGTCAAAATGAATTACAGAA	0.408000													18	19					0	0	1	0	0
PCDHA9	0	broad.mit.edu	37	5	140228118	140228118	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9EI-01A-11D-A39W-08	TCGA-V4-A9EI-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbc5b1a0-ba7f-4de1-98ad-79c87040179c	5b7ee91e-13aa-4179-8d86-0d94352047f8	g.chr5:140228118C>T	ENST00000378122.3	+	1	762	c.38C>T	c.(37-39)cCt>cTt	p.P13L	PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Missense_Mutation_p.P13L|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron	NM_014005.3	NP_054724.1														breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGGGTCAGCCTCTACTGCTC	0.507000													49	4					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179437657	179437657	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9EI-01A-11D-A39W-08	TCGA-V4-A9EI-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbc5b1a0-ba7f-4de1-98ad-79c87040179c	5b7ee91e-13aa-4179-8d86-0d94352047f8	g.chr2:179437657G>A	ENST00000589042.1	-	326	73426	c.73202C>T	c.(73201-73203)gCc>gTc	p.A24401V	TTN_ENST00000460472.2_Missense_Mutation_p.A15336V|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A15461V|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A15528V|TTN_ENST00000591111.1_Missense_Mutation_p.A22760V|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A21833V|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	22760	Fibronectin type-III 77.						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)			GGAATTCATGGCATAGATGCG	0.488000													3	36					0	0	1	0	0
PCCA	5095	broad.mit.edu	37	13	101020822	101020822	+	Silent	SNP	G	G	A			TCGA-V4-A9EI-01A-11D-A39W-08	TCGA-V4-A9EI-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbc5b1a0-ba7f-4de1-98ad-79c87040179c	5b7ee91e-13aa-4179-8d86-0d94352047f8	g.chr13:101020822G>A	ENST00000376285.1	+	19	1778	c.1740G>A	c.(1738-1740)gtG>gtA	p.V580V	PCCA_ENST00000376279.3_Silent_p.V580V|PCCA_ENST00000376286.4_Silent_p.V554V	NM_000282.3	NP_000273.2	P05165	PCCA_HUMAN	propionyl CoA carboxylase, alpha polypeptide	580					fatty acid beta-oxidation	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|enzyme binding|metal ion binding|propionyl-CoA carboxylase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|prostate(1)|skin(2)	26	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Biotin(DB00121)	ATGGGTCAGTGTTCTCGGTGA	0.358000													36	43					0	0	1	0	0
DYNC2H1	79659	broad.mit.edu	37	11	103175411	103175411	+	Missense_Mutation	SNP	T	T	A			TCGA-V4-A9EI-01A-11D-A39W-08	TCGA-V4-A9EI-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbc5b1a0-ba7f-4de1-98ad-79c87040179c	5b7ee91e-13aa-4179-8d86-0d94352047f8	g.chr11:103175411T>A	ENST00000375735.2	+	77	11488	c.11344T>A	c.(11344-11346)Tta>Ata	p.L3782I	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.L3789I	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	3782	AAA 6 (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TTTGAAGAACTTACATCTTGT	0.393000													35	33					0	0	1	0	0
MYO7B	4648	broad.mit.edu	37	2	128324266	128324266	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9EI-01A-11D-A39W-08	TCGA-V4-A9EI-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbc5b1a0-ba7f-4de1-98ad-79c87040179c	5b7ee91e-13aa-4179-8d86-0d94352047f8	g.chr2:128324266C>T	ENST00000389524.4	+	5	387	c.334C>T	c.(334-336)Ccg>Tcg	p.P112S	MYO7B_ENST00000409816.2_Missense_Mutation_p.P112S|MYO7B_ENST00000428314.1_Missense_Mutation_p.P112S			Q6PIF6	MYO7B_HUMAN	myosin VIIB	112	Myosin head-like.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		CCAGGTGCTGCCGCTCTACAC	0.607000													3	12					0	0	1	0	0
PRG4	10216	broad.mit.edu	37	1	186276306	186276306	+	Silent	SNP	T	T	C	rs78867190	byFrequency	TCGA-V4-A9EI-01A-11D-A39W-08	TCGA-V4-A9EI-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbc5b1a0-ba7f-4de1-98ad-79c87040179c	5b7ee91e-13aa-4179-8d86-0d94352047f8	g.chr1:186276306T>C	ENST00000445192.2	+	7	1500	c.1455T>C	c.(1453-1455)acT>acC	p.T485T	PRG4_ENST00000367486.3_Silent_p.T442T|PRG4_ENST00000367485.4_Silent_p.T392T|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367483.4_Silent_p.T444T	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	485	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	p.T485T(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CTGCACCCACTGCCCCCAAGA	0.652000													5	51					0	0	1	0	0
CHD1	1105	broad.mit.edu	37	5	98239547	98239547	+	Silent	SNP	C	C	T			TCGA-V4-A9EI-01A-11D-A39W-08	TCGA-V4-A9EI-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbc5b1a0-ba7f-4de1-98ad-79c87040179c	5b7ee91e-13aa-4179-8d86-0d94352047f8	g.chr5:98239547C>T	ENST00000284049.3	-	3	470	c.321G>A	c.(319-321)caG>caA	p.Q107Q		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	107					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	gctgctgctgctgttgctgct	0.393000													4	27					0	0	1	0	0
KRTAP4-8	728224	broad.mit.edu	37	17	39254054	39254054	+	Missense_Mutation	SNP	A	A	T	rs76270529	by1000genomes	TCGA-V4-A9EI-01A-11D-A39W-08	TCGA-V4-A9EI-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbc5b1a0-ba7f-4de1-98ad-79c87040179c	5b7ee91e-13aa-4179-8d86-0d94352047f8	g.chr17:39254054A>T	ENST00000333822.4	-	1	339	c.283T>A	c.(283-285)Tgc>Agc	p.C95S		NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN	keratin associated protein 4-8	95	25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].					keratin filament		p.C95S(4)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						ctggagatgcagcagcTAGGG	0.677000													3	27					0	0	1	0	0
MC2R	0	broad.mit.edu	37	18	13885229	13885229	+	Missense_Mutation	SNP	T	T	A			TCGA-V4-A9EI-01A-11D-A39W-08	TCGA-V4-A9EI-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbc5b1a0-ba7f-4de1-98ad-79c87040179c	5b7ee91e-13aa-4179-8d86-0d94352047f8	g.chr18:13885229T>A	ENST00000327606.3	-	2	469	c.289A>T	c.(289-291)Agt>Tgt	p.S97C		NM_000529.2	NP_000520.1	Q01718	ACTHR_HUMAN	melanocortin 2 receptor (adrenocorticotropic hormone)	97					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	corticotropin receptor activity|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30					Corticotropin(DB01285)|Cosyntropin(DB01284)	GTTTCAAAACTGCCACGTGGC	0.483000													39	38					0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39799059	39799060	+	Frame_Shift_Ins	INS	-	-	G			TCGA-V4-A9EI-01A-11D-A39W-08	TCGA-V4-A9EI-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbc5b1a0-ba7f-4de1-98ad-79c87040179c	5b7ee91e-13aa-4179-8d86-0d94352047f8	g.chr1:39799059_39799060insG	ENST00000564288.1	+	37	7576_7577	c.6799_6800insG	c.(6799-6801)aggfs	p.R2267fs	MACF1_ENST00000545844.1_Intron|MACF1_ENST00000372915.3_Frame_Shift_Ins_p.R2272fs|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000567887.1_Frame_Shift_Ins_p.R2304fs|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000289893.4_Frame_Shift_Ins_p.R707fs|MACF1_ENST00000317713.7_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	2272					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGATAGTGGCAGGGAAATTTTT	0.391													14	73	---	---	---	---					
RP11-739N20.2	0	broad.mit.edu	37	1	204363980	204363980	+	RNA	DEL	A	A	-			TCGA-V4-A9EI-01A-11D-A39W-08	TCGA-V4-A9EI-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbc5b1a0-ba7f-4de1-98ad-79c87040179c	5b7ee91e-13aa-4179-8d86-0d94352047f8	g.chr1:204363980delA	ENST00000443515.1	+	0	146																											tttgtttttcaaaaaaaaaaa	0.308													3	6	---	---	---	---					
BAP1	8314	broad.mit.edu	37	3	52436650	52436659	+	Frame_Shift_Del	DEL	ATGAACTCAT	ATGAACTCAT	-			TCGA-V4-A9EI-01A-11D-A39W-08	TCGA-V4-A9EI-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbc5b1a0-ba7f-4de1-98ad-79c87040179c	5b7ee91e-13aa-4179-8d86-0d94352047f8	g.chr3:52436650_52436659delATGAACTCAT	ENST00000460680.1	-	16	2486_2495	c.2015_2024delATGAGTTCAT	c.(2014-2025)gatgagttcatcfs	p.DEFI672fs	BAP1_ENST00000296288.5_Frame_Shift_Del_p.DEFI654fs	NM_004656.2	NP_004647.1	Q92560	BAP1_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	672	Interaction with BRCA1.				monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|PR-DUB complex	chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.D672G(1)		NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		AAAGGTGCAGATGAACTCATCGTAGTTGTG	0.562			"""N, Mis, F, S, O"""		"""uveal melanoma, breast, NSCLC, RCC"""	"""mesothelioma, uveal melanoma"""							23	8	---	---	---	---					
CCDC71L	168455	broad.mit.edu	37	7	106301004	106301004	+	Frame_Shift_Del	DEL	C	C	-			TCGA-V4-A9EI-01A-11D-A39W-08	TCGA-V4-A9EI-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbc5b1a0-ba7f-4de1-98ad-79c87040179c	5b7ee91e-13aa-4179-8d86-0d94352047f8	g.chr7:106301004delC	ENST00000523505.1	-	1	438	c.339delG	c.(337-339)gggfs	p.G113fs		NM_175884.4	NP_787080.2	Q8N9Z2	YG034_HUMAN	coiled-coil domain containing 71-like	113	Pro-rich.									endometrium(1)	1						CTGTAGGGGGCCCCGGGGGGT	0.761													2	4	---	---	---	---					
PRKDC	5591	broad.mit.edu	37	8	48746799	48746799	+	Frame_Shift_Del	DEL	T	T	-			TCGA-V4-A9EI-01A-11D-A39W-08	TCGA-V4-A9EI-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbc5b1a0-ba7f-4de1-98ad-79c87040179c	5b7ee91e-13aa-4179-8d86-0d94352047f8	g.chr8:48746799delT	ENST00000314191.2	-	60	8163	c.8107delA	c.(8107-8109)aggfs	p.R2703fs	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Frame_Shift_Del_p.R2703fs	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2704	KIP-binding.				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)				AGGCCCAGCCTTTTTTTCCCA	0.498								Non-homologous end-joining					7	1142	---	---	---	---					
ANXA13	312	broad.mit.edu	37	8	124707762	124707762	+	Frame_Shift_Del	DEL	T	T	-			TCGA-V4-A9EI-01A-11D-A39W-08	TCGA-V4-A9EI-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbc5b1a0-ba7f-4de1-98ad-79c87040179c	5b7ee91e-13aa-4179-8d86-0d94352047f8	g.chr8:124707762delT	ENST00000262219.6	-	7	641	c.574delA	c.(574-576)atcfs	p.I192fs	ANXA13_ENST00000419625.1_Frame_Shift_Del_p.I151fs	NM_001003954.1	NP_001003954.1	P27216	ANX13_HUMAN	annexin A13	151					cell differentiation	plasma membrane	calcium ion binding|calcium-dependent phospholipid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	25	Lung NSC(37;2.06e-11)|Ovarian(258;0.00579)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00288)			GACACCAGGATTTTTTTTAGG	0.413													7	582	---	---	---	---					
SNRPA1	6627	broad.mit.edu	37	15	101835317	101835317	+	Frame_Shift_Del	DEL	C	C	-			TCGA-V4-A9EI-01A-11D-A39W-08	TCGA-V4-A9EI-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbc5b1a0-ba7f-4de1-98ad-79c87040179c	5b7ee91e-13aa-4179-8d86-0d94352047f8	g.chr15:101835317delC	ENST00000254193.6	-	1	139	c.67delG	c.(67-69)gagfs	p.E23fs	SNRPA1_ENST00000560856.1_5'UTR	NM_003090.2	NP_003081.2	P09661	RU2A_HUMAN	small nuclear ribonucleoprotein polypeptide A'	23						catalytic step 2 spliceosome|nucleoplasm|U2 snRNP	protein binding|RNA binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6	Lung NSC(78;0.00156)|all_lung(78;0.00195)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00113)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			AGGTCCAGCTCCCGGTCGCGC	0.711													2	4	---	---	---	---					
FAM83D	81610	broad.mit.edu	37	20	37555322	37555323	+	In_Frame_Ins	INS	-	-	GCG			TCGA-V4-A9EI-01A-11D-A39W-08	TCGA-V4-A9EI-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dbc5b1a0-ba7f-4de1-98ad-79c87040179c	5b7ee91e-13aa-4179-8d86-0d94352047f8	g.chr20:37555322_37555323insGCG	ENST00000217429.4	+	1	368_369	c.327_328insGCG	c.(328-330)gcg>GCGgcg	p.110_110A>AA		NM_030919.2	NP_112181.2	Q9H4H8	FA83D_HUMAN	family with sequence similarity 83, member D	80					cell division|mitosis	cytoplasm|spindle pole				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1)	28		Myeloproliferative disorder(115;0.00878)				GAGAGGAGGGCgcggcggcggc	0.718													2	4	---	---	---	---					
