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
USH2A	7399	broad.mit.edu	37	1	215808006	215808006	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr1:215808006C>T	ENST00000366943.2	-	70	15478	c.15092G>A	c.(15091-15093)cGg>cAg	p.R5031Q	USH2A_ENST00000307340.3_Missense_Mutation_p.R5031Q			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	5031			R -> W.		maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GCTTTTGCTCCGCGATCCCTT	0.448000										HNSCC(13;0.011)			32	60					0	0	1	0	0
THOP1	7064	broad.mit.edu	37	19	2808387	2808387	+	Missense_Mutation	SNP	A	A	G			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr19:2808387A>G	ENST00000307741.6	+	9	1603	c.1400A>G	c.(1399-1401)gAg>gGg	p.E467G	THOP1_ENST00000586677.1_Missense_Mutation_p.E346G|THOP1_ENST00000591149.1_3'UTR	NM_003249.3	NP_003240.1	P52888	THOP1_HUMAN	thimet oligopeptidase 1	467					proteolysis	cytoplasm	metal ion binding|metalloendopeptidase activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|lung(8)|ovary(2)|skin(1)	14				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)		CAGCATGACGAGGTGGAGACC	0.692000													9	17					0	0	1	0	0
ATP11C	286410	broad.mit.edu	37	X	138864753	138864753	+	Silent	SNP	A	A	G			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chrX:138864753A>G	ENST00000370557.1	-	18	2932	c.1905T>C	c.(1903-1905)gaT>gaC	p.D635D	ATP11C_ENST00000327569.3_Silent_p.D638D|ATP11C_ENST00000359686.2_Silent_p.D638D|ATP11C_ENST00000460773.1_5'UTR|ATP11C_ENST00000370543.1_Silent_p.D638D|ATP11C_ENST00000361648.2_Silent_p.D638D			Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	638					ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					TTGTCTCAATATCATCGAAAA	0.333000													33	33					0	0	1	0	0
SMARCA4	6597	broad.mit.edu	37	19	11170533	11170533	+	Silent	SNP	G	G	A			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr19:11170533G>A	ENST00000358026.2	+	34	5120	c.4836G>A	c.(4834-4836)gaG>gaA	p.E1612E	SMARCA4_ENST00000429416.3_Silent_p.E1580E|SMARCA4_ENST00000444061.3_Silent_p.E1546E|SMARCA4_ENST00000541122.2_Silent_p.E1550E|SMARCA4_ENST00000450717.3_Silent_p.E1549E|SMARCA4_ENST00000590574.1_Silent_p.E1547E|SMARCA4_ENST00000413806.3_Silent_p.E1550E|SMARCA4_ENST00000344626.4_Silent_p.E1580E|SMARCA4_ENST00000589677.1_Silent_p.E1549E	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1580					chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				aggaggaagagggcgaggagg	0.612000			"""F, N, Mis"""		NSCLC								8	28					0	0	1	0	0
TNFSF14	0	broad.mit.edu	37	19	6664984	6664984	+	Nonsense_Mutation	SNP	G	G	A			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr19:6664984G>A	ENST00000326176.9	-	5	949	c.568C>T	c.(568-570)Cga>Tga	p.R190*	TNFSF14_ENST00000599359.1_Nonsense_Mutation_p.R226*|TNFSF14_ENST00000245912.3_Nonsense_Mutation_p.R190*	NM_003807.3|NM_172014.2	NP_003798.2|NP_742011.2	O43557	TNF14_HUMAN	tumor necrosis factor (ligand) superfamily, member 14	226					cellular response to mechanical stimulus|immune response|induction of apoptosis|release of cytoplasmic sequestered NF-kappaB|T cell homeostasis|T cell proliferation	cytoplasm|extracellular space|integral to membrane|plasma membrane	caspase inhibitor activity|cytokine activity|tumor necrosis factor receptor binding			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18						TCACGCAGTCGAACCAGGCGT	0.602000													56	133					0	0	1	0	0
NPC1L1	29881	broad.mit.edu	37	7	44560403	44560403	+	Missense_Mutation	SNP	T	T	C			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr7:44560403T>C	ENST00000289547.4	-	14	3152	c.3097A>G	c.(3097-3099)Agc>Ggc	p.S1033G	NPC1L1_ENST00000546276.1_Missense_Mutation_p.S987G|NPC1L1_ENST00000381160.3_Missense_Mutation_p.S1033G	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	1033					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	ACAGAGGTGCTGTATGCTGCC	0.582000													32	69					0	0	1	0	0
CADPS	8618	broad.mit.edu	37	3	62463981	62463981	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr3:62463981C>T	ENST00000383710.4	-	23	3633	c.3284G>A	c.(3283-3285)cGg>cAg	p.R1095Q	CADPS_ENST00000283269.9_Missense_Mutation_p.R1056Q|CADPS_ENST00000357948.3_Missense_Mutation_p.R1016Q	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	1095	Interaction with DRD2.|MHD1.				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		CAACTTCAGCCGTTGTTCCAG	0.502000													14	78					0	0	1	0	0
COL2A1	1280	broad.mit.edu	37	12	48377906	48377906	+	Silent	SNP	A	A	G			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr12:48377906A>G	ENST00000380518.3	-	29	2069	c.1905T>C	c.(1903-1905)gaT>gaC	p.D635D	COL2A1_ENST00000493991.1_5'UTR|COL2A1_ENST00000337299.6_Silent_p.D566D	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	635	Triple-helical region.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	CTGTCTCACCATCTTTGCCAG	0.592000													7	9					0	0	1	0	0
MKI67	4288	broad.mit.edu	37	10	129921413	129921413	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr10:129921413C>T	ENST00000368654.3	-	3	488	c.113G>A	c.(112-114)cGt>cAt	p.R38H	MKI67_ENST00000368653.3_Missense_Mutation_p.R38H	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	38	FHA.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				AAGCTGGATACGGATGTCACA	0.348000													20	6					0	0	1	0	0
STAG2	10735	broad.mit.edu	37	X	123227873	123227873	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chrX:123227873G>A	ENST00000371160.1	+	32	3763	c.3473G>A	c.(3472-3474)cGt>cAt	p.R1158H	STAG2_ENST00000354548.5_Missense_Mutation_p.R1089H|STAG2_ENST00000218089.9_Missense_Mutation_p.R1195H|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000371157.3_Missense_Mutation_p.R1158H|STAG2_ENST00000371144.3_Missense_Mutation_p.R1158H|STAG2_ENST00000371145.3_Missense_Mutation_p.R1195H			Q8N3U4	STAG2_HUMAN	stromal antigen 2	1158					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						TCTAGTCGGCGTGGCACAAGC	0.388000													33	60					0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10404812	10404812	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr17:10404812C>T	ENST00000226207.5	-	27	3447	c.3353G>A	c.(3352-3354)cGc>cAc	p.R1118H	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1118						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CTCCTCAATGCGGGCCTGGGA	0.502000													18	31					0	0	1	0	0
MAGEA10	4109	broad.mit.edu	37	X	151304073	151304073	+	Missense_Mutation	SNP	C	C	T	rs145553450	byFrequency	TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chrX:151304073C>T	ENST00000370323.4	-	4	336	c.20G>A	c.(19-21)cGt>cAt	p.R7H	MAGEA10_ENST00000244096.3_Missense_Mutation_p.R7H|RP11-1007I13.4_ENST00000509345.2_RNA	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386.2	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	7								p.R7H(1)		endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					GCAGCGCTGACGCTTTGGAGC	0.602000													39	50					0	0	1	0	0
SLC9A3	6550	broad.mit.edu	37	5	488443	488443	+	Silent	SNP	G	G	A			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr5:488443G>A	ENST00000264938.3	-	3	672	c.663C>T	c.(661-663)gaC>gaT	p.D221D	SLC9A3_ENST00000514375.1_Silent_p.D221D	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3	221						cell surface|integral to membrane	sodium:hydrogen antiporter activity			NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			CGGTGACTGCGTCGTTCAGCA	0.662000													13	57					0	0	1	0	0
SEMG1	6406	broad.mit.edu	37	20	43836216	43836216	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr20:43836216C>T	ENST00000372781.3	+	2	335	c.278C>T	c.(277-279)aCg>aTg	p.T93M	SEMG1_ENST00000244069.6_Missense_Mutation_p.T93M	NM_003007.3	NP_002998.1			semenogelin I											cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.0122)				CTACATAAGACGACAAAATCA	0.378000													18	76					0	0	1	0	0
TRAV13-1	0	broad.mit.edu	37	14	22337418	22337418	+	RNA	SNP	G	G	A			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr14:22337418G>A	ENST00000390436.2	+	0	232																											ATAGACATTCGTTCAAATGTG	0.423000													42	53					0	0	1	0	0
NPTX1	4884	broad.mit.edu	37	17	78447110	78447110	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr17:78447110C>T	ENST00000306773.4	-	3	944	c.787G>A	c.(787-789)Gcc>Acc	p.A263T		NM_002522.3	NP_002513.2	Q15818	NPTX1_HUMAN	neuronal pentraxin I	263	Pentaxin.				central nervous system development|synaptic transmission|transport	transport vesicle	metal ion binding			kidney(1)|large_intestine(2)|liver(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)	11	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0487)			CCTGGCGTGGCGCTGGACTTG	0.587000													24	116					0	0	1	0	0
GRM8	0	broad.mit.edu	37	7	126409978	126409978	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr7:126409978C>T	ENST00000339582.2	-	7	2106	c.1298G>A	c.(1297-1299)cGa>cAa	p.R433Q	GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000358373.3_Missense_Mutation_p.R433Q|GRM8_ENST00000405249.1_Missense_Mutation_p.R433Q|GRM8_ENST00000444921.2_Missense_Mutation_p.R433Q			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	433					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	GGTACTCATTCGTGGACAAAG	0.403000										HNSCC(24;0.065)			50	89					0	0	1	0	0
MS4A6A	64231	broad.mit.edu	37	11	59949075	59949075	+	Silent	SNP	G	G	A	rs113133013		TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr11:59949075G>A	ENST00000528851.1	-	2	266	c.126C>T	c.(124-126)caC>caT	p.H42H	MS4A6A_ENST00000323961.3_Silent_p.H42H|MS4A6A_ENST00000532169.1_Silent_p.H42H|MS4A6A_ENST00000420732.2_Silent_p.H42H|MS4A6A_ENST00000412309.2_Silent_p.H70H|MS4A6A_ENST00000529054.1_Silent_p.H70H|MS4A6A_ENST00000530839.1_Silent_p.H42H|MS4A6A_ENST00000426738.2_Silent_p.H42H|MS4A6A_ENST00000533023.1_Silent_p.H42H			Q9H2W1	M4A6A_HUMAN	membrane-spanning 4-domains, subfamily A, member 6A	42						integral to membrane	receptor activity	p.H42H(1)		endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TGATTTCTGCGTGTAGATGTT	0.468000													21	58					0	0	1	0	0
ABCC1	4363	broad.mit.edu	37	16	16150051	16150051	+	Missense_Mutation	SNP	G	G	C	rs72547522		TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr16:16150051G>C	ENST00000399408.2	+	12	1751	c.1576G>C	c.(1576-1578)Gac>Cac	p.D526H	ABCC1_ENST00000346370.5_Missense_Mutation_p.D526H|ABCC1_ENST00000399410.3_Missense_Mutation_p.D526H|ABCC1_ENST00000345148.5_Missense_Mutation_p.D526H|ABCC1_ENST00000349029.5_Missense_Mutation_p.D526H|ABCC1_ENST00000351154.5_Missense_Mutation_p.D526H			P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	526	ABC transmembrane type-1 1.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	GGCATTCAAGGACAAGGTGCT	0.532000													22	30					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152281402	152281402	+	Missense_Mutation	SNP	C	C	T	rs150720370		TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr1:152281402C>T	ENST00000368799.1	-	3	5995	c.5960G>A	c.(5959-5961)cGt>cAt	p.R1987H	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1987	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.R1987H(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGCCTGTCCACGAGAGGAAGA	0.572000									Ichthyosis				212	288					0	0	1	0	0
TNS4	84951	broad.mit.edu	37	17	38645139	38645139	+	Silent	SNP	C	C	T			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr17:38645139C>T	ENST00000254051.6	-	3	680	c.522G>A	c.(520-522)ccG>ccA	p.P174P		NM_032865.5	NP_116254.4	Q8IZW8	TENS4_HUMAN	tensin 4	174	Ser-rich.				apoptosis|protein localization	cytoplasm|cytoskeleton|focal adhesion	actin binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			AGCCGAAGGGCGGGGTGACAG	0.607000													9	59					0	0	1	0	0
OR2T4	127074	broad.mit.edu	37	1	248525695	248525695	+	Silent	SNP	C	C	A			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr1:248525695C>A	ENST00000366475.1	+	1	813	c.813C>A	c.(811-813)gcC>gcA	p.A271A		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	271					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AGGCCTTTGCCACCTGCTCCT	0.547000													37	51					1.49673e-21	1.57988e-21	1	1	0
WNK1	65125	broad.mit.edu	37	12	978106	978106	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr12:978106G>A	ENST00000537687.1	+	9	3857	c.3214G>A	c.(3214-3216)Gga>Aga	p.G1072R	WNK1_ENST00000574564.1_Missense_Mutation_p.G371R|WNK1_ENST00000530271.2_Missense_Mutation_p.G1157R|WNK1_ENST00000340908.4_Intron|WNK1_ENST00000315939.6_Intron|WNK1_ENST00000535572.1_Intron	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	822					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			CCCTACAGGGGGAGCAGCTGC	0.502000													44	167					0	0	1	0	0
ATP1A3	478	broad.mit.edu	37	19	42489240	42489240	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr19:42489240C>T	ENST00000545399.1	-	8	1015	c.862G>A	c.(862-864)Gcc>Acc	p.A288T	ATP1A3_ENST00000602133.1_Missense_Mutation_p.A245T|ATP1A3_ENST00000543770.1_Missense_Mutation_p.A286T|ATP1A3_ENST00000302102.5_Missense_Mutation_p.A275T	NM_001256214.1	NP_001243143.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	275					ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						ATCTCGATGGCGATGGGCGTC	0.632000													9	17					0	0	1	0	0
PRMT10	90826	broad.mit.edu	37	4	148605024	148605024	+	Nonsense_Mutation	SNP	G	G	A			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr4:148605024G>A	ENST00000322396.6	-	1	357	c.115C>T	c.(115-117)Cag>Tag	p.Q39*	PRMT10_ENST00000541232.1_5'UTR	NM_138364.2	NP_612373.2	Q6P2P2	ANM10_HUMAN	protein arginine methyltransferase 10 (putative)	39						cytoplasm	binding|protein methyltransferase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						CCGAAGTCCTGGACGCCCAGA	0.672000													15	52					0	0	1	0	0
KCNB2	9312	broad.mit.edu	37	8	73480009	73480009	+	Missense_Mutation	SNP	T	T	C			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr8:73480009T>C	ENST00000523207.1	+	2	628	c.40T>C	c.(40-42)Tca>Cca	p.S14P		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	14					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			CAGGAAGACTTCAAGGTCGAC	0.502000													39	53					0	0	1	0	0
SCN3A	6328	broad.mit.edu	37	2	165997166	165997166	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr2:165997166G>A	ENST00000360093.3	-	13	2505	c.2014C>T	c.(2014-2016)Cca>Tca	p.P672S	SCN3A_ENST00000409101.3_Intron|SCN3A_ENST00000283254.7_Missense_Mutation_p.P672S	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	672						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	ATCACCTCTGGGGGAAGTTGT	0.473000													27	31					0	0	1	0	0
GRIN2B	2904	broad.mit.edu	37	12	13717356	13717356	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr12:13717356C>T	ENST00000279593.3	-	13	3025	c.2816G>A	c.(2815-2817)cGc>cAc	p.R939H		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	939					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CGTGAAGCTGCGGCGGTGCTC	0.542000													32	105					0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75038691	75038691	+	Silent	SNP	C	C	T			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr1:75038691C>T	ENST00000326665.5	-	14	2921	c.2703G>A	c.(2701-2703)aaG>aaA	p.K901K	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	901	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CAAGCACTGCCTTCTCTAAAC	0.527000													7	214					0	0	1	0	0
DOCK5	80005	broad.mit.edu	37	8	25253206	25253206	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr8:25253206G>A	ENST00000276440.7	+	45	4719	c.4675G>A	c.(4675-4677)Gtc>Atc	p.V1559I		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	1559	DHR-2.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		GGACCCGGCCGTCATGGGGGG	0.582000													14	12					0	0	1	0	0
TEKT4P2	0	broad.mit.edu	37	21	9907222	9907222	+	RNA	SNP	T	T	C	rs4023131		TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr21:9907222T>C	ENST00000416067.1	-	0	1570					NR_037872.1|NR_038327.1																						ATTTGGGGGATTGGGGGGAAG	0.587000													3	17					0	0	1	0	0
MTUS2	23281	broad.mit.edu	37	13	29599192	29599192	+	Missense_Mutation	SNP	T	T	A			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr13:29599192T>A	ENST00000431530.3	+	1	445	c.387T>A	c.(385-387)gaT>gaA	p.D129E		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	119						cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						GAGGCACAGATAGCCTGCAGA	0.507000													7	45					0	0	1	0	0
TENM3	55714	broad.mit.edu	37	4	183664409	183664409	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr4:183664409C>T	ENST00000511685.1	+	19	3589	c.3466C>T	c.(3466-3468)Cgc>Tgc	p.R1156C	TENM3_ENST00000406950.2_Missense_Mutation_p.R1156C|TENM3_ENST00000502950.1_3'UTR					teneurin transmembrane protein 3																		TGGGCGAAGGCGCAGCATTTC	0.522000													10	28					0	0	1	0	0
TAS2R31	259290	broad.mit.edu	37	12	11183917	11183917	+	Silent	SNP	G	G	A			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr12:11183917G>A	ENST00000390675.2	-	1	89	c.18C>T	c.(16-18)ccC>ccT	p.P6P	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_176885.2	NP_795366.2	P59538	T2R31_HUMAN	taste receptor, type 2, member 31	6					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			kidney(1)|lung(6)	7						AAAAAATGATGGGTATAAAAG	0.403000													6	34					0	0	1	0	0
RAVER2	55225	broad.mit.edu	37	1	65273098	65273098	+	Missense_Mutation	SNP	C	C	G			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr1:65273098C>G	ENST00000294428.3	+	9	1699	c.1621C>G	c.(1621-1623)Ctg>Gtg	p.L541V	RAVER2_ENST00000371072.4_Missense_Mutation_p.L528V|RAVER2_ENST00000430964.2_Intron			Q9HCJ3	RAVR2_HUMAN	ribonucleoprotein, PTB-binding 2	541						cytoplasm|nucleus	nucleotide binding|RNA binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						TGGAAGCTTGCTGGTGGGACA	0.493000													4	34					0	0	1	0	0
EFNA3	1944	broad.mit.edu	37	1	155058634	155058634	+	Missense_Mutation	SNP	C	C	T	rs143760648		TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr1:155058634C>T	ENST00000368408.3	+	4	609	c.539C>T	c.(538-540)aCt>aTt	p.T180I	EFNA3_ENST00000505139.1_Missense_Mutation_p.T175I|EFNA3_ENST00000556931.1_Missense_Mutation_p.T175I|EFNA3_ENST00000498667.1_3'UTR|EFNA3_ENST00000418360.2_Intron	NM_004952.4	NP_004943.1	P52797	EFNA3_HUMAN	ephrin-A3	180					cell-cell signaling	anchored to membrane|integral to plasma membrane	ephrin receptor binding|transmembrane-ephrin receptor activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(2)	5	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		all cancers(21;5.67e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000284)|LUSC - Lung squamous cell carcinoma(543;0.193)			CCGGTCCCCACTCTCCCCCAG	0.682000											OREG0013850	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	19					0	0	1	0	0
CCDC129	223075	broad.mit.edu	37	7	31682624	31682624	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr7:31682624C>T	ENST00000319386.3	+	11	2189	c.1196C>T	c.(1195-1197)cCc>cTc	p.P399L	CCDC129_ENST00000407970.3_Missense_Mutation_p.P547L|CCDC129_ENST00000409210.1_Missense_Mutation_p.P455L|CCDC129_ENST00000451887.2_Missense_Mutation_p.P573L			Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	547										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						CTGCCAATGCCCCATGCTGAG	0.527000													31	161					0	0	1	0	0
KRT13	3860	broad.mit.edu	37	17	39659673	39659673	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr17:39659673G>A	ENST00000246635.3	-	3	647	c.601C>T	c.(601-603)Cgc>Tgc	p.R201C	KRT13_ENST00000336861.3_Missense_Mutation_p.R201C|KRT13_ENST00000587544.1_Missense_Mutation_p.R201C	NM_153490.2	NP_705694.2	P13646	K1C13_HUMAN	keratin 13	201	Coil 1B.|Rod.				epidermis development	intermediate filament	structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33		Breast(137;0.000286)				ACGCTCTGGCGCAGGGCCAGC	0.483000													30	31					0	0	1	0	0
IRF9	10379	broad.mit.edu	37	14	24634044	24634044	+	Nonsense_Mutation	SNP	C	C	T			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr14:24634044C>T	ENST00000396864.3	+	7	1158	c.871C>T	c.(871-873)Cag>Tag	p.Q291*	RP11-468E2.4_ENST00000558468.1_3'UTR|IRF9_ENST00000557894.1_Nonsense_Mutation_p.Q189*	NM_006084.4	NP_006075.3	Q00978	IRF9_HUMAN	interferon regulatory factor 9	291					interferon-gamma-mediated signaling pathway|response to virus|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|nucleoplasm	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(265;0.00853)		CCTCTTCGTGCAGCGCCTTTG	0.672000													20	86					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105418755	105418755	+	Silent	SNP	C	C	T			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr14:105418755C>T	ENST00000333244.5	-	7	3152	c.3033G>A	c.(3031-3033)tcG>tcA	p.S1011S	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1011						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TCCCTGGGGCCGATACCCCGA	0.607000													131	146					0	0	1	0	0
STAG2	10735	broad.mit.edu	37	X	123179121	123179121	+	Silent	SNP	C	C	T			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chrX:123179121C>T	ENST00000371160.1	+	8	860	c.570C>T	c.(568-570)atC>atT	p.I190I	STAG2_ENST00000354548.5_Silent_p.I121I|STAG2_ENST00000218089.9_Silent_p.I190I|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000371157.3_Silent_p.I190I|STAG2_ENST00000371145.3_Silent_p.I190I|STAG2_ENST00000371144.3_Silent_p.I190I			Q8N3U4	STAG2_HUMAN	stromal antigen 2	190					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						AATATAGTATCATATATGATG	0.408000													72	90					0	0	1	0	0
ARHGEF2	9181	broad.mit.edu	37	1	155935533	155935533	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr1:155935533G>A	ENST00000368316.1	-	9	748	c.278C>T	c.(277-279)cCa>cTa	p.P93L	ARHGEF2_ENST00000361247.4_Missense_Mutation_p.P120L|ARHGEF2_ENST00000313667.4_Missense_Mutation_p.P120L|ARHGEF2_ENST00000368315.3_Missense_Mutation_p.P121L|ARHGEF2_ENST00000313695.7_Missense_Mutation_p.P93L			Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 2	120					actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of cell proliferation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|Golgi apparatus|microtubule|ruffle membrane|spindle|tight junction	microtubule binding|Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|zinc ion binding			breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					GGCCGAGCTTGGCCGCTCCCG	0.622000													13	29					0	0	1	0	0
MNS1	55329	broad.mit.edu	37	15	56721344	56721344	+	Silent	SNP	G	G	A			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr15:56721344G>A	ENST00000260453.3	-	10	1607	c.1443C>T	c.(1441-1443)ttC>ttT	p.F481F	TEX9_ENST00000352903.2_Intron|TEX9_ENST00000537232.1_Intron|MNS1_ENST00000566386.1_5'UTR	NM_018365.2	NP_060835.1	Q8NEH6	MNS1_HUMAN	meiosis-specific nuclear structural 1	481					meiosis					breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	20				all cancers(107;0.0196)|GBM - Glioblastoma multiforme(80;0.101)		ATACTTTCCTGAACTCTTCAC	0.323000													8	28					0	0	1	0	0
PLXNB3	5365	broad.mit.edu	37	X	153036313	153036313	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chrX:153036313G>A	ENST00000538966.1	+	12	2451	c.2180G>A	c.(2179-2181)cGc>cAc	p.R727H	PLXNB3_ENST00000538543.1_Intron|PLXNB3_ENST00000538282.1_Missense_Mutation_p.R314H|PLXNB3_ENST00000361971.5_Missense_Mutation_p.R704H|PLXNB3_ENST00000538776.1_Missense_Mutation_p.R357H	NM_001163257.1	NP_001156729.1	Q9ULL4	PLXB3_HUMAN	plexin B3	704					axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					TTGGCCCTACGCGTGCGGAAC	0.637000													13	64					0	0	1	0	0
SOAT1	6646	broad.mit.edu	37	1	179319441	179319441	+	Missense_Mutation	SNP	A	A	G			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr1:179319441A>G	ENST00000367619.3	+	14	1468	c.1325A>G	c.(1324-1326)aAg>aGg	p.K442R	SOAT1_ENST00000535686.1_Missense_Mutation_p.K178R|SOAT1_ENST00000540564.1_Missense_Mutation_p.K384R|SOAT1_ENST00000539888.1_Missense_Mutation_p.K377R	NM_003101.5	NP_003092.4	P35610	SOAT1_HUMAN	sterol O-acyltransferase 1	442					cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|cholesterol storage|macrophage derived foam cell differentiation|positive regulation of amyloid precursor protein biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|stomach(1)	20					Ezetimibe(DB00973)|Hesperetin(DB01094)	TTTTTCTCCAAGAGATTCAAA	0.353000													21	30					0	0	1	0	0
HLA-A	3105	broad.mit.edu	37	6	29910693	29910693	+	Missense_Mutation	SNP	A	A	G	rs41559716	by1000genomes	TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr6:29910693A>G	ENST00000396634.1	+	4	574	c.233A>G	c.(232-234)cAg>cGg	p.Q78R	HLA-A_ENST00000376802.2_Missense_Mutation_p.Q78R|HLA-A_ENST00000376809.5_Missense_Mutation_p.Q78R|HLA-A_ENST00000376806.5_Missense_Mutation_p.Q78R			P30443	1A01_HUMAN	major histocompatibility complex, class I, A	78	Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity	p.Q78R(2)		central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						TGGATAGAGCAGGAGGGGCCG	0.657000									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)			3	20					0	0	1	0	0
ANK1	286	broad.mit.edu	37	8	41530255	41530255	+	Silent	SNP	C	C	T	rs138394311	byFrequency	TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr8:41530255C>T	ENST00000396942.1	-	38	4796	c.4713G>A	c.(4711-4713)gcG>gcA	p.A1571A	ANK1_ENST00000265709.8_Silent_p.A1612A|ANK1_ENST00000379758.2_Silent_p.A1571A|ANK1_ENST00000289734.7_Silent_p.A1571A|ANK1_ENST00000396945.1_Silent_p.A1571A|ANK1_ENST00000347528.4_Silent_p.A1571A|ANK1_ENST00000352337.4_Silent_p.A1571A			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1571	55 kDa regulatory domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GCGTGAGGCCCGCAGACCACA	0.602000													19	31					0	0	1	0	0
SLC13A2	9058	broad.mit.edu	37	17	26817852	26817852	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr17:26817852G>A	ENST00000444914.3	+	4	1069	c.649G>A	c.(649-651)Gtc>Atc	p.V217I	SLC13A2_ENST00000545060.1_Missense_Mutation_p.V125I|SLC13A2_ENST00000537681.1_Missense_Mutation_p.V97I|SLC13A2_ENST00000314669.5_Missense_Mutation_p.V168I	NM_001145975.1	NP_001139447.1	Q13183	S13A2_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2	168						integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	CAGCAGCAACGTCGAGGAGGG	0.597000													8	12					0	0	1	0	0
UTRN	7402	broad.mit.edu	37	6	145156985	145156985	+	Silent	SNP	G	G	A			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr6:145156985G>A	ENST00000367545.3	+	69	9735	c.9735G>A	c.(9733-9735)ccG>ccA	p.P3245P	UTRN_ENST00000367526.4_Silent_p.P800P	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	3245					muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		TGAGCCAGCCGCAGAGCCCAG	0.557000													4	157					0	0	1	0	0
MAP7D2	256714	broad.mit.edu	37	X	20033363	20033363	+	Missense_Mutation	SNP	T	T	G			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chrX:20033363T>G	ENST00000379651.3	-	11	1622	c.1604A>C	c.(1603-1605)cAg>cCg	p.Q535P	MAP7D2_ENST00000443379.3_Missense_Mutation_p.Q490P|MAP7D2_ENST00000379643.5_Missense_Mutation_p.Q576P|MAP7D2_ENST00000452324.3_Missense_Mutation_p.Q483P|MAP7D2_ENST00000543767.1_Missense_Mutation_p.Q420P	NM_152780.3	NP_689993.2	Q96T17	MA7D2_HUMAN	MAP7 domain containing 2	535										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	37						CAGTCTCTCCTGCTCAATCTG	0.473000													9	64					0	0	1	0	0
DGKG	1608	broad.mit.edu	37	3	186024718	186024718	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr3:186024718C>T	ENST00000265022.3	-	3	655	c.116G>A	c.(115-117)gGg>gAg	p.G39E	DGKG_ENST00000544847.1_Missense_Mutation_p.G39E|DGKG_ENST00000382164.4_Missense_Mutation_p.G39E|DGKG_ENST00000344484.4_Missense_Mutation_p.G39E	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	diacylglycerol kinase, gamma 90kDa	39					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	TTTGAGGCTCCCACCCTCATT	0.383000													8	42					0	0	1	0	0
NIPBL	25836	broad.mit.edu	37	5	37000657	37000657	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr5:37000657C>T	ENST00000282516.8	+	12	3986	c.3487C>T	c.(3487-3489)Ccc>Tcc	p.P1163S	NIPBL_ENST00000448238.2_Missense_Mutation_p.P1163S	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	1163					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			TTCTCCTCCTCCCAGCCTTAG	0.393000													20	51					0	0	1	0	0
GPR37	2861	broad.mit.edu	37	7	124386977	124386977	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr7:124386977G>A	ENST00000303921.2	-	2	2094	c.1444C>T	c.(1444-1446)Cgg>Tgg	p.R482W		NM_005302.2	NP_005293.1	O15354	GPR37_HUMAN	G protein-coupled receptor 37 (endothelin receptor type B-like)	482						endoplasmic reticulum membrane|integral to plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TGAATCTGCCGTTTATTCCCT	0.428000													17	106					0	0	1	0	0
PCDHGA5	0	broad.mit.edu	37	5	140744172	140744172	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr5:140744172G>A	ENST00000518069.1	+	1	275	c.275G>A	c.(274-276)cGg>cAg	p.R92Q	PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGATAGACCGGGAGGAGCTC	0.537000													19	87					0	0	1	0	0
CNTROB	116840	broad.mit.edu	37	17	7850971	7850971	+	Silent	SNP	C	C	T			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr17:7850971C>T	ENST00000380262.3	+	14	3001	c.2076C>T	c.(2074-2076)gaC>gaT	p.D692D	CNTROB_ENST00000565740.1_Silent_p.D692D|CNTROB_ENST00000380255.3_3'UTR|CNTROB_ENST00000563694.1_Silent_p.D692D	NM_001037144.5	NP_001032221.1	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein	692	Pro-rich.|Required for centrosome localization.				centriole replication|centrosome separation|cytokinesis	centriole	protein domain specific binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25		Prostate(122;0.173)				CTGGACCTGACGGGGAGGGCC	0.557000													50	101					0	0	1	0	0
MKNK1	8569	broad.mit.edu	37	1	47024399	47024399	+	Missense_Mutation	SNP	C	C	T	rs147526106		TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr1:47024399C>T	ENST00000371946.4	-	14	1409	c.1246G>A	c.(1246-1248)Gaa>Aaa	p.E416K	MKNK1_ENST00000341183.5_3'UTR|MKNK1_ENST00000428112.2_3'UTR|MKNK1_ENST00000371945.4_Missense_Mutation_p.E375K|MKNK1-AS1_ENST00000602433.1_RNA|MKNK1_ENST00000371944.4_Missense_Mutation_p.E280K	NM_003684.5	NP_003675.2	Q9BUB5	MKNK1_HUMAN	MAP kinase interacting serine/threonine kinase 1	416					intracellular protein kinase cascade|peptidyl-serine phosphorylation|regulation of translation	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	13	Acute lymphoblastic leukemia(166;0.155)					TCGTTCTCTTCGTGCTGAGAT	0.602000													10	55					0	0	1	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3686553	3686553	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr20:3686553G>A	ENST00000344754.4	-	3	543	c.544C>T	c.(544-546)Cgc>Tgc	p.R182C	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.R182C	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	182	Ig-like C2-type 1.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						GTGACAGAGCGAGCAGGGTCC	0.627000													18	83					0	0	1	0	0
PBX4	80714	broad.mit.edu	37	19	19675808	19675808	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr19:19675808C>T	ENST00000251203.8	-	6	1145	c.859G>A	c.(859-861)Gct>Act	p.A287T		NM_025245.2	NP_079521.1	Q9BYU1	PBX4_HUMAN	pre-B-cell leukemia homeobox 4	287							sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(4)|ovary(1)|prostate(3)	9						GTATCCACAGCCGTTTTACCC	0.527000													57	382					0	0	1	0	0
MED15	51586	broad.mit.edu	37	22	20929472	20929472	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr22:20929472G>A	ENST00000263205.7	+	9	1294	c.1225G>A	c.(1225-1227)Gcc>Acc	p.A409T	MED15_ENST00000478831.1_Intron|MED15_ENST00000425759.2_Intron|MED15_ENST00000542773.1_Intron|MED15_ENST00000292733.7_Intron|MED15_ENST00000541476.1_Intron|MED15_ENST00000406969.1_Intron|MED15_ENST00000382974.2_Intron	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	409	Pro-rich.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			CGCTGTGTCCGCCATCCCGTC	0.622000													4	95					0	0	1	0	0
PCDHGA2	0	broad.mit.edu	37	5	140719294	140719294	+	Silent	SNP	G	G	A			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr5:140719294G>A	ENST00000394576.2	+	1	756	c.756G>A	c.(754-756)ccG>ccA	p.P252P	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1														breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAAGCATTCCGGAGAATACGC	0.552000													34	80					0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238280552	238280552	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr2:238280552C>T	ENST00000295550.4	-	9	4560	c.4108G>A	c.(4108-4110)Gcc>Acc	p.A1370T	COL6A3_ENST00000472056.1_Missense_Mutation_p.A763T|COL6A3_ENST00000392004.3_Missense_Mutation_p.A1164T|COL6A3_ENST00000392003.2_Missense_Mutation_p.A963T|COL6A3_ENST00000347401.3_Missense_Mutation_p.A1169T|COL6A3_ENST00000353578.4_Missense_Mutation_p.A1164T|COL6A3_ENST00000409809.1_Missense_Mutation_p.A1164T|COL6A3_ENST00000346358.4_Missense_Mutation_p.A1170T	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1370	Nonhelical region.|VWFA 7.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GCGTTCCTGGCGATCGTGAAA	0.612000													5	43					0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1271690	1271690	+	Missense_Mutation	SNP	C	C	A			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr11:1271690C>A	ENST00000447027.1	+	31	13647	c.13589C>A	c.(13588-13590)tCc>tAc	p.S4530Y	MUC5B_ENST00000529681.1_Missense_Mutation_p.S4527Y			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4527	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GCCATCCCCTCCTCCTCCCTG	0.622000													33	66					2.66277e-13	2.74959e-13	1	1	0
RIMS1	0	broad.mit.edu	37	6	72889437	72889437	+	Nonsense_Mutation	SNP	C	C	T			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr6:72889437C>T	ENST00000264839.7	+	5	631	c.631C>T	c.(631-633)Cga>Tga	p.R211*	RIMS1_ENST00000522291.1_Nonsense_Mutation_p.R211*|RIMS1_ENST00000520567.1_Nonsense_Mutation_p.R211*|RIMS1_ENST00000348717.5_Nonsense_Mutation_p.R211*|RIMS1_ENST00000517960.1_Nonsense_Mutation_p.R211*|RIMS1_ENST00000491071.2_Nonsense_Mutation_p.R211*|RIMS1_ENST00000518273.1_Nonsense_Mutation_p.R211*|RIMS1_ENST00000521978.1_Nonsense_Mutation_p.R211*			Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	211					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				AAAGAAAGCACGACTCCAAGA	0.567000													19	39					0	0	1	0	0
GAS2L2	246176	broad.mit.edu	37	17	34074958	34074958	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr17:34074958G>A	ENST00000254466.6	-	4	769	c.742C>T	c.(742-744)Cgg>Tgg	p.R248W	GAS2L2_ENST00000587565.1_Missense_Mutation_p.R232W	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	248	GAR.				cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		ACATGGTTCCGGAGGATCTGA	0.642000											OREG0024328	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	24					0	0	1	0	0
OR51T1	401665	broad.mit.edu	37	11	4903844	4903844	+	Missense_Mutation	SNP	G	G	T			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr11:4903844G>T	ENST00000380378.1	+	1	796	c.796G>T	c.(796-798)Gct>Tct	p.A266S	MMP26_ENST00000477339.1_Intron|OR51T1_ENST00000322049.1_Missense_Mutation_p.A239S|MMP26_ENST00000380390.1_Intron	NM_001004759.1	NP_001004759.1	Q8NGJ9	O51T1_HUMAN	olfactory receptor, family 51, subfamily T, member 1	239					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCAACAAAAAGCTCTCAGCAC	0.488000													7	28					2.0095e-06	2.03088e-06	1	1	0
ANKRD7	56311	broad.mit.edu	37	7	117874919	117874919	+	Silent	SNP	G	G	A			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr7:117874919G>A	ENST00000357099.4	+	4	692	c.519G>A	c.(517-519)gcG>gcA	p.A173A	ANKRD7_ENST00000433239.1_Silent_p.A100A|ANKRD7_ENST00000265224.4_Silent_p.A153A|ANKRD7_ENST00000477532.1_3'UTR|ANKRD7_ENST00000417525.1_Silent_p.A100A			Q92527	ANKR7_HUMAN	ankyrin repeat domain 7	153					male gonad development					breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)	29						ATCTTGAAGCGAAAAATAAGG	0.299000													5	44					0	0	1	0	0
ACAA2	10449	broad.mit.edu	37	18	47329202	47329202	+	Missense_Mutation	SNP	T	T	C			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr18:47329202T>C	ENST00000285093.10	-	2	513	c.38A>G	c.(37-39)aAg>aGg	p.K13R	RP11-886H22.1_ENST00000590532.2_3'UTR|ACAA2_ENST00000589432.1_5'UTR|ACAA2_ENST00000587994.1_Missense_Mutation_p.K10R	NM_006111.2	NP_006102.2	P42765	THIM_HUMAN	acetyl-CoA acyltransferase 2	13					anti-apoptosis|cholesterol biosynthetic process		acetyl-CoA C-acyltransferase activity|protein binding			large_intestine(2)|lung(7)|ovary(1)	10						GGGCGTTCGCTTAGCAGCAAC	0.448000													30	26					0	0	1	0	0
TTLL4	9654	broad.mit.edu	37	2	219602960	219602960	+	Silent	SNP	G	G	A			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr2:219602960G>A	ENST00000392102.1	+	3	901	c.561G>A	c.(559-561)gcG>gcA	p.A187A	TTLL4_ENST00000258398.4_Silent_p.A187A|TTLL4_ENST00000457313.1_Silent_p.A22A|TTLL4_ENST00000442769.1_Silent_p.A187A	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	187					protein polyglutamylation	cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		GCTTGGCAGCGGCTGGGGAAA	0.542000													47	55					0	0	1	0	0
ZKSCAN8	0	broad.mit.edu	37	6	28121482	28121482	+	Nonsense_Mutation	SNP	C	C	A			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr6:28121482C>A	ENST00000330236.6	+	6	1608	c.1424C>A	c.(1423-1425)tCa>tAa	p.S475*	ZKSCAN8_ENST00000457389.2_Nonsense_Mutation_p.S475*	NM_001278119.1|NM_001278121.1|NM_001278122.1|NM_006298.2	NP_001265048.1|NP_001265050.1|NP_001265051.1|NP_006289.2			zinc finger with KRAB and SCAN domains 8																		AGGCGGAGCTCACATCTTATT	0.498000													21	28					3.51602e-12	3.59163e-12	1	1	0
MED12	9968	broad.mit.edu	37	X	70352986	70352986	+	Nonsense_Mutation	SNP	G	G	A			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chrX:70352986G>A	ENST00000333646.6	+	33	4740	c.4541G>A	c.(4540-4542)tGg>tAg	p.W1514*	MED12_ENST00000374080.3_Nonsense_Mutation_p.W1514*|MED12_ENST00000374102.1_Nonsense_Mutation_p.W1514*|MED12_ENST00000478889.1_Intron	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	1514					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					GTGAATAATTGGCGAGATGAC	0.438000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome						22	34					0	0	1	0	0
AP4E1	23431	broad.mit.edu	37	15	51240332	51240332	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr15:51240332G>A	ENST00000261842.5	+	11	1398	c.1292G>A	c.(1291-1293)gGc>gAc	p.G431D	AP4E1_ENST00000560508.1_Missense_Mutation_p.G356D	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1 subunit	431					intracellular protein transport|vesicle-mediated transport	COPI vesicle coat	binding|structural molecule activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		AATTTGGTCGGCAAAATAGCA	0.338000													3	50					0	0	1	0	0
FANCA	2175	broad.mit.edu	37	16	89813023	89813023	+	Missense_Mutation	SNP	G	G	A	rs142833057	by1000genomes	TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr16:89813023G>A	ENST00000389301.3	-	35	3512	c.3482C>T	c.(3481-3483)aCg>aTg	p.T1161M	FANCA_ENST00000568369.1_Missense_Mutation_p.T1161M	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	1161					DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding	p.T1161M(2)		breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		GGGGCATTTCGTCTGGCACTT	0.567000			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				9	38					0	0	1	0	0
RANBP17	64901	broad.mit.edu	37	5	170692729	170692729	+	Missense_Mutation	SNP	G	G	A	rs141341938	byFrequency	TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr5:170692729G>A	ENST00000523189.1	+	25	2985	c.2821G>A	c.(2821-2823)Gtc>Atc	p.V941I	RANBP17_ENST00000521759.1_3'UTR	NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	941					mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			AGACTACATCGTCACCTACCT	0.418000			T	TRD@	ALL								24	97					0	0	1	0	0
CPSF3	51692	broad.mit.edu	37	2	9574027	9574027	+	Missense_Mutation	SNP	C	C	A			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr2:9574027C>A	ENST00000460593.1	+	6	1574	c.436C>A	c.(436-438)Caa>Aaa	p.Q146K	CPSF3_ENST00000238112.3_Missense_Mutation_p.Q183K			Q9UKF6	CPSF3_HUMAN	cleavage and polyadenylation specific factor 3, 73kDa	183					histone mRNA 3'-end processing|mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex|ribonucleoprotein complex	5'-3' exonuclease activity|endoribonuclease activity|metal ion binding|protein binding|RNA binding			NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;2.39e-25)|all_epithelial(98;8.75e-19)|Lung NSC(108;2.38e-06)|Ovarian(717;0.0308)		all cancers(51;2.2e-40)|Epithelial(75;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(76;4.35e-21)|STAD - Stomach adenocarcinoma(1183;0.00644)		TTTCTCAAGACAAGAAGATAG	0.308000													27	43					8.58068e-18	8.95786e-18	1	1	0
EGFR	1956	broad.mit.edu	37	7	55221822	55221822	+	Missense_Mutation	SNP	C	C	T	rs149840192		TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr7:55221822C>T	ENST00000275493.2	+	7	1043	c.866C>T	c.(865-867)gCc>gTc	p.A289V	EGFR_ENST00000342916.3_Missense_Mutation_p.A289V|EGFR_ENST00000344576.2_Missense_Mutation_p.A289V|EGFR_ENST00000454757.2_Missense_Mutation_p.A236V|EGFR_ENST00000455089.1_Missense_Mutation_p.A244V|EGFR_ENST00000420316.2_Missense_Mutation_p.A289V|EGFR_ENST00000442591.1_Missense_Mutation_p.A289V	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	289					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.A289V(20)|p.A289D(3)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	AGCTTTGGTGCCACCTGCGTG	0.592000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			912	374					0	0	1	0	0
ANO1	55107	broad.mit.edu	37	11	70011580	70011580	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr11:70011580C>T	ENST00000355303.5	+	20	2260	c.1955C>T	c.(1954-1956)gCg>gTg	p.A652V	ANO1_ENST00000538023.1_Missense_Mutation_p.A652V|ANO1_ENST00000531349.1_Missense_Mutation_p.A361V|ANO1_ENST00000530676.1_Missense_Mutation_p.A506V|ANO1_ENST00000398543.2_Missense_Mutation_p.A506V	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	652					multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29						CCACAGTGTGCGCCAGGGGGC	0.607000													6	2					0	0	1	0	0
SYMPK	8189	broad.mit.edu	37	19	46351096	46351096	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr19:46351096C>T	ENST00000245934.7	-	7	834	c.590G>A	c.(589-591)cGc>cAc	p.R197H		NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	197					cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		GTCAGCCATGCGGGGTGACAG	0.577000													3	44					0	0	1	0	0
CD3EAP	10849	broad.mit.edu	37	19	45911859	45911861	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr19:45911859_45911861delGAA	ENST00000309424.3	+	3	1121_1123	c.633_635delGAA	c.(631-636)cgg>cg	p.RK211del	ERCC1_ENST00000300853.3_3'UTR|CD3EAP_ENST00000589804.1_In_Frame_Del_p.RK213del|ERCC1_ENST00000423698.2_3'UTR	NM_012099.1	NP_036231.1	O15446	RPA34_HUMAN	CD3e molecule, epsilon associated protein	211					rRNA transcription|transmembrane receptor protein tyrosine kinase signaling pathway	chromosome|RNA polymerase I transcription factor complex	DNA-directed RNA polymerase activity			breast(2)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0251)		TGGATGTGCGGAAGAAGAAGAAG	0.581													7	154	---	---	---	---					
RP13-228J13.1	0	broad.mit.edu	37	X	154578865	154578865	+	RNA	DEL	G	G	-	rs150846040	by1000genomes	TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chrX:154578865delG	ENST00000412436.1	-	0	98				RP13-228J13.5_ENST00000453508.1_RNA|RP13-228J13.1_ENST00000444722.1_RNA																							TTTTCTCTCTGTTTTTTTTTT	0.418													3	6	---	---	---	---