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
R3HDM1	23518	broad.mit.edu	37	2	136467088	136467088	+	Missense_Mutation	SNP	C	C	A			TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chr2:136467088C>A	ENST00000264160.4	+	21	2810	c.2440C>A	c.(2440-2442)Caa>Aaa	p.Q814K	R3HDM1_ENST00000409606.1_Missense_Mutation_p.Q815K|R3HDM1_ENST00000409478.1_Missense_Mutation_p.Q686K|R3HDM1_ENST00000329971.3_Missense_Mutation_p.Q685K|R3HDM1_ENST00000410054.1_Missense_Mutation_p.Q759K	NM_001282798.1|NM_015361.2	NP_001269727.1|NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1	814							nucleic acid binding			breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		CCAGCAGCTTCAAGGCCACCA	0.383000													3	39					1	1	1	1	0
C4BPA	722	broad.mit.edu	37	1	207287489	207287489	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chr1:207287489G>A	ENST00000367070.3	+	3	381	c.187G>A	c.(187-189)Gat>Aat	p.D63N		NM_000715.3	NP_000706.1	P04003	C4BPA_HUMAN	complement component 4 binding protein, alpha	63	Sushi 1.				complement activation, classical pathway|innate immune response	extracellular region	protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2)	28						TGCCCCGATGGATATTACGTT	0.478000													43	76					0	0	1	0	0
NUPL2	11097	broad.mit.edu	37	7	23236324	23236324	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chr7:23236324A>G	ENST00000258742.5	+	5	807	c.548A>G	c.(547-549)aAt>aGt	p.N183S		NM_007342.2	NP_031368.1	O15504	NUPL2_HUMAN	nucleoporin like 2	183					carbohydrate metabolic process|glucose transport|mRNA transport|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nuclear pore	nuclear export signal receptor activity|nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CGTTTAATAAATCAATGGAGG	0.323000													22	31					0	0	1	0	0
KDM5A	5927	broad.mit.edu	37	12	442740	442740	+	Silent	SNP	G	G	C			TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chr12:442740G>C	ENST00000399788.2	-	12	1928	c.1566C>G	c.(1564-1566)gcC>gcG	p.A522A	KDM5A_ENST00000382815.4_Silent_p.A522A	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	522	JmjC.				chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						ATAACTCGGGGGCCAGCTCTC	0.502000			T	NUP98	AML								7	97					0	0	1	0	0
HCFC1	3054	broad.mit.edu	37	X	153222180	153222180	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chrX:153222180G>A	ENST00000310441.7	-	15	3497	c.2531C>T	c.(2530-2532)aCc>aTc	p.T844I	HCFC1_ENST00000354233.3_Missense_Mutation_p.T775I|HCFC1_ENST00000369984.4_Missense_Mutation_p.T844I	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1 (VP16-accessory protein)	844	Interaction with GABP2.|Interaction with ZBTB17.				cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCGGAGGATGGTGCCTGGCTG	0.647000													40	13					0	0	1	0	0
LRRC14	9684	broad.mit.edu	37	8	145746678	145746678	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chr8:145746678A>G	ENST00000292524.1	+	4	1444	c.1298A>G	c.(1297-1299)gAc>gGc	p.D433G	LRRC14_ENST00000529022.1_Missense_Mutation_p.D433G	NM_001272036.1|NM_014665.2	NP_001258965.1|NP_055480.1	Q15048	LRC14_HUMAN	leucine rich repeat containing 14	433										endometrium(1)|lung(3)|prostate(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			TTCCCTGTGGACTGCTATGAG	0.627000													26	45					0	0	1	0	0
RREB1	6239	broad.mit.edu	37	6	7240815	7240815	+	Missense_Mutation	SNP	T	T	A			TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chr6:7240815T>A	ENST00000379938.2	+	11	4490	c.3953T>A	c.(3952-3954)gTt>gAt	p.V1318D	RREB1_ENST00000334984.6_Missense_Mutation_p.V1318D|RREB1_ENST00000379933.3_Intron|RREB1_ENST00000349384.6_Intron	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	1272					multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				GAGAGTGATGTTGGATCCCAT	0.507000													25	22					0	0	1	0	0
STOX1	219736	broad.mit.edu	37	10	70645061	70645061	+	Silent	SNP	A	A	G			TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chr10:70645061A>G	ENST00000298596.6	+	3	1592	c.1509A>G	c.(1507-1509)cgA>cgG	p.R503R	STOX1_ENST00000399162.2_Intron|STOX1_ENST00000399165.4_Intron|STOX1_ENST00000421961.2_Silent_p.R393R|STOX1_ENST00000399169.4_Silent_p.R503R	NM_152709.4	NP_689922.3	Q6ZVD7	STOX1_HUMAN	storkhead box 1	503						cytoplasm|nucleolus	DNA binding			breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						TGTCTCACCGAGGAAGCACAA	0.448000													33	47					0	0	1	0	0
KRT31	3881	broad.mit.edu	37	17	39551856	39551856	+	Missense_Mutation	SNP	C	C	A			TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chr17:39551856C>A	ENST00000251645.2	-	4	660	c.608G>T	c.(607-609)tGc>tTc	p.C203F		NM_002277.2	NP_002268.2	Q15323	K1H1_HUMAN	keratin 31	203	Coil 1B.|Rod.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31		Breast(137;0.000496)				TCCAAGCTGGCAGCGCAGGGT	0.517000													20	26					8.34094e-07	8.98255e-07	1	1	0
ADAMTSL1	92949	broad.mit.edu	37	9	18657637	18657637	+	Splice_Site	SNP	A	A	G			TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chr9:18657637A>G	ENST00000380548.4	+	8	1174	c.835A>G	c.(835-837)Att>Gtt	p.I279V	ADAMTSL1_ENST00000276935.6_Splice_Site_p.I279V|ADAMTSL1_ENST00000380566.4_Splice_Site_p.I279V|ADAMTSL1_ENST00000327883.7_Splice_Site_p.I279V	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	279						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		ACTCCTGCAGATTCGTAACTC	0.483000													21	21					0	0	1	0	0
ZBTB20	26137	broad.mit.edu	37	3	114058161	114058161	+	Silent	SNP	G	G	A			TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chr3:114058161G>A	ENST00000462705.1	-	12	2519	c.1698C>T	c.(1696-1698)tgC>tgT	p.C566C	ZBTB20_ENST00000471418.1_Silent_p.C566C|ZBTB20_ENST00000481632.1_Silent_p.C566C|ZBTB20_ENST00000464560.1_Silent_p.C566C|ZBTB20_ENST00000393785.2_Silent_p.C566C|ZBTB20_ENST00000474710.1_Silent_p.C639C|ZBTB20_ENST00000357258.3_Silent_p.C566C	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	639					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		AGCGCTTGTTGCAGATACTAC	0.512000													41	54					0	0	1	0	0
USP53	54532	broad.mit.edu	37	4	120193028	120193028	+	Missense_Mutation	SNP	G	G	C			TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chr4:120193028G>C	ENST00000450251.1	+	12	2557	c.2013G>C	c.(2011-2013)gaG>gaC	p.E671D	USP53_ENST00000274030.6_Missense_Mutation_p.E671D			Q70EK8	UBP53_HUMAN	ubiquitin specific peptidase 53	671					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						GCCTTGTAGAGGGTAAAGTGC	0.393000													4	94					0	0	1	0	0
FAM120C	54954	broad.mit.edu	37	X	54209078	54209078	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chrX:54209078C>T	ENST00000375180.2	-	1	610	c.554G>A	c.(553-555)cGt>cAt	p.R185H	FAM120C_ENST00000477084.1_Missense_Mutation_p.R185H|FAM120C_ENST00000328235.4_Missense_Mutation_p.R185H|FAM120C_ENST00000497680.1_5'UTR	NM_017848.4	NP_060318.3	Q9NX05	F120C_HUMAN	family with sequence similarity 120C	185										breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						CTGGCACCGACGGCCCCACTC	0.721000													5	9					0	0	1	0	0
BRSK1	84446	broad.mit.edu	37	19	55800958	55800958	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chr19:55800958C>T	ENST00000309383.1	+	4	705	c.428C>T	c.(427-429)gCg>gTg	p.A143V	BRSK1_ENST00000590333.1_Missense_Mutation_p.A159V|BRSK1_ENST00000585418.1_Missense_Mutation_p.A143V	NM_032430.1	NP_115806.1	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	143	Protein kinase.				establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		ATTGTGTCTGCGCTGGACTTC	0.622000													23	32					0	0	1	0	0
RABGAP1L	9910	broad.mit.edu	37	1	174926682	174926682	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chr1:174926682A>G	ENST00000489615.1	+	3	787	c.386A>G	c.(385-387)tAc>tGc	p.Y129C	RABGAP1L_ENST00000367686.3_3'UTR|RABGAP1L_ENST00000486220.1_Missense_Mutation_p.Y67C|RABGAP1L_ENST00000478442.1_Missense_Mutation_p.Y67C|RABGAP1L_ENST00000347255.2_Missense_Mutation_p.Y137C|RABGAP1L_ENST00000251507.4_Missense_Mutation_p.Y810C|RABGAP1L_ENST00000367687.1_Missense_Mutation_p.Y136C|RABGAP1L_ENST00000392064.2_Missense_Mutation_p.Y67C|RABGAP1L_ENST00000325589.5_Missense_Mutation_p.Y117C	NM_001243765.1	NP_001230694.1	Q5R372	RBG1L_HUMAN	RAB GTPase activating protein 1-like	810	PID.				regulation of protein localization	early endosome|Golgi apparatus|nucleus	Rab GTPase activator activity			NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2)	45						ATGGATAGATACAAGGTATGA	0.423000													12	26					0	0	1	0	0
MAL2	114569	broad.mit.edu	37	8	120233832	120233832	+	Silent	SNP	C	C	T			TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chr8:120233832C>T	ENST00000276681.6	+	3	240	c.138C>T	c.(136-138)ttC>ttT	p.F46F	RP11-4K16.2_ENST00000522828.1_lincRNA|MAL2_ENST00000521748.1_3'UTR	NM_052886.2	NP_443118.1	Q969L2	MAL2_HUMAN	mal, T-cell differentiation protein 2 (gene/pseudogene)	46	MARVEL.					apical plasma membrane|endomembrane system|integral to membrane|perinuclear region of cytoplasm	protein binding					all_cancers(13;1.91e-26)|Lung NSC(37;8.61e-08)|Ovarian(258;0.018)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.000967)			TTCAGCTGTTCGGGGGTCTTG	0.428000													48	308					0	0	1	0	0
RGS12	6002	broad.mit.edu	37	4	3318022	3318022	+	Missense_Mutation	SNP	G	G	T			TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chr4:3318022G>T	ENST00000336727.3	+	2	1029	c.125G>T	c.(124-126)tGt>tTt	p.C42F	RGS12_ENST00000344733.5_Missense_Mutation_p.C42F|RGS12_ENST00000543385.1_Missense_Mutation_p.C42F|RGS12_ENST00000382788.3_Missense_Mutation_p.C42F	NM_002926.3	NP_002917.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	42	PDZ.					condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CAGGCACCCTGTGTGCTCAGC	0.612000													26	30					1.64293e-13	1.86495e-13	1	1	0
CACNA2D1	781	broad.mit.edu	37	7	81591323	81591323	+	Missense_Mutation	SNP	A	A	T			TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chr7:81591323A>T	ENST00000356860.3	-	36	3191	c.2853T>A	c.(2851-2853)gaT>gaA	p.D951E	CACNA2D1_ENST00000356253.5_Missense_Mutation_p.D963E|CACNA2D1_ENST00000535308.1_Missense_Mutation_p.D163E	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	963						voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	CCGTGAAGTCATCATCCTCCA	0.483000													22	48					0	0	1	0	0
POM121	9883	broad.mit.edu	37	7	72398976	72398976	+	Missense_Mutation	SNP	A	A	G	rs147859349		TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chr7:72398976A>G	ENST00000395270.1	+	7	1322	c.281A>G	c.(280-282)aAt>aGt	p.N94S	POM121_ENST00000257622.4_Missense_Mutation_p.N94S|POM121_ENST00000358357.3_Missense_Mutation_p.N94S|POM121_ENST00000446813.1_Missense_Mutation_p.N94S|POM121_ENST00000434423.2_Missense_Mutation_p.N359S	NM_001257190.1	NP_001244119.1	Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	359	Pore side (Potential).|Required for targeting to the nucleus and nuclear pore complex.				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				CTGGTGGCCAATGGAGTCCCC	0.468000													5	199					0	0	1	0	0
ABCA2	20	broad.mit.edu	37	9	139910252	139910252	+	Missense_Mutation	SNP	C	C	A			TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chr9:139910252C>A	ENST00000265662.5	-	23	3536	c.3389G>T	c.(3388-3390)cGc>cTc	p.R1130L	ABCA2_ENST00000341511.6_Missense_Mutation_p.R1130L|ABCA2_ENST00000371605.3_Missense_Mutation_p.R1129L			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	1129	ABC transporter 1.				cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		GGACAGCTTGCGCTTCATGCC	0.672000													30	24					1.30897e-18	1.52713e-18	1	1	0
MED12L	116931	broad.mit.edu	37	3	151085530	151085530	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chr3:151085530G>A	ENST00000474524.1	+	22	3357	c.3319G>A	c.(3319-3321)Gca>Aca	p.A1107T	P2RY12_ENST00000302632.3_Intron|MED12L_ENST00000273432.4_Missense_Mutation_p.A967T	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1107					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GCAGCATGTCGCACTTCCCTC	0.453000													60	92					0	0	1	0	0
STAT5B	6777	broad.mit.edu	37	17	40354366	40354366	+	Silent	SNP	G	G	A			TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chr17:40354366G>A	ENST00000293328.3	-	18	2397	c.2229C>T	c.(2227-2229)taC>taT	p.Y743Y		NM_012448.3	NP_036580.2	P51692	STA5B_HUMAN	signal transducer and activator of transcription 5B	743					2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|JAK-STAT cascade involved in growth hormone signaling pathway|oxaloacetate metabolic process|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|glucocorticoid receptor binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.135)	Dasatinib(DB01254)	ACTTCTGTGGGTACATGTTAT	0.632000													9	24					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma								34	58					0	0	1	0	0
RAB19	401409	broad.mit.edu	37	7	140125837	140125837	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chr7:140125837G>A	ENST00000275874.5	+	5	880	c.682G>A	c.(682-684)Gcg>Acg	p.A228T	RAB19_ENST00000356407.3_Missense_Mutation_p.A181T|RAB19_ENST00000537763.1_Missense_Mutation_p.A181T			A4D1S5	RAB19_HUMAN	RAB19, member RAS oncogene family	181					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			breast(3)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	9	Melanoma(164;0.0142)					GGAGCTGATCGCGCGCAACAG	0.572000													24	103					0	0	1	0	0
SPINK7	84651	broad.mit.edu	37	5	147693711	147693711	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chr5:147693711C>T	ENST00000274565.4	+	3	197	c.136C>T	c.(136-138)Ccc>Tcc	p.P46S	SPINK7_ENST00000514394.1_3'UTR|RP11-373N22.3_ENST00000501695.3_RNA|SPINK7_ENST00000523535.1_Missense_Mutation_p.P20S	NM_032566.2	NP_115955.1	P58062	ISK7_HUMAN	serine peptidase inhibitor, Kazal type 7 (putative)	46	Kazal-like.					extracellular region	protein binding|serine-type endopeptidase inhibitor activity			large_intestine(2)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATCCCCTGCCCCATCACATA	0.463000													54	64					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9047644	9047644	+	Missense_Mutation	SNP	G	G	T			TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chr19:9047644G>T	ENST00000397910.4	-	5	34190	c.33987C>A	c.(33985-33987)gaC>gaA	p.D11329E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11331	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTGCACTGATGTCTCTCCCAG	0.507000													15	131					4.7546e-09	5.25509e-09	1	1	0
ZBBX	79740	broad.mit.edu	37	3	167039968	167039968	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chr3:167039968T>C	ENST00000392766.2	-	12	1260	c.920A>G	c.(919-921)aAt>aGt	p.N307S	ZBBX_ENST00000455345.2_Missense_Mutation_p.N307S|ZBBX_ENST00000307529.5_Missense_Mutation_p.N307S|ZBBX_ENST00000392767.2_Missense_Mutation_p.N307S|ZBBX_ENST00000392764.1_Missense_Mutation_p.N278S|ZBBX_ENST00000469220.1_Intron	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	307						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						AAGTTCAATATTAAGTGGTTC	0.279000													29	46					0	0	1	0	0
LOC101927060	101927060	broad.mit.edu	37	17	45128742	45128742	+	RNA	SNP	T	T	G	rs34655963	by1000genomes	TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chr17:45128742T>G	ENST00000575173.1	-	0	418																											TAATGATTTTTATTATACTTT	0.328000													4	105					0	0	1	0	0
MED12L	116931	broad.mit.edu	37	3	151067902	151067902	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chr3:151067902G>A	ENST00000474524.1	+	15	2239	c.2201G>A	c.(2200-2202)gGc>gAc	p.G734D	P2RY12_ENST00000302632.3_Intron|MED12L_ENST00000273432.4_Missense_Mutation_p.G594D|MED12L_ENST00000491549.1_3'UTR	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	734					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TATGGAGTCGGCAAAGAGCGT	0.423000													4	211					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577610	7577610	+	Splice_Site	SNP	T	T	C			TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chr17:7577610T>C	ENST00000420246.2	-	7	805		c.e7-2		TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000574684.1_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000445888.2_Splice_Site	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53						activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.?(43)|p.0?(8)|p.V225fs*24(1)|p.E224_V225insXX(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		AGAGCCAACCTAGGAGATAAC	0.522000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			44	10					0	0	1	0	0
PRX	57716	broad.mit.edu	37	19	40901999	40901999	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chr19:40901999G>A	ENST00000324001.7	-	7	2530	c.2260C>T	c.(2260-2262)Cgg>Tgg	p.R754W	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	754	55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER].				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TCCGGCAGCCGAATCTCTGAC	0.597000													53	96					0	0	1	0	0
TUBB8P7	197331	broad.mit.edu	37	16	90162462	90162462	+	RNA	SNP	A	A	G			TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chr16:90162462A>G	ENST00000564451.1	+	0	1815				TUBB8P7_ENST00000567960.1_RNA														p.T398T(1)									ACTGGTACACAGGCGAGGGCA	0.522000													4	105					0	0	1	0	0
TSKS	60385	broad.mit.edu	37	19	50243411	50243411	+	Silent	SNP	G	G	A			TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chr19:50243411G>A	ENST00000246801.3	-	10	1609	c.1527C>T	c.(1525-1527)caC>caT	p.H509H	TSKS_ENST00000358830.3_Silent_p.H309H	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	509							protein binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		CTGCCCTGACGTGTTTGGCTA	0.647000													27	35					0	0	1	0	0
ARPC1A	10552	broad.mit.edu	37	7	98984335	98984335	+	Nonstop_Mutation	SNP	A	A	T			TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chr7:98984335A>T	ENST00000432884.2	+	13	1499	c.1038A>T	c.(1036-1038)tgA>tgT	p.*346C	ARPC1B_ENST00000451682.1_Missense_Mutation_p.E31V|ARPC1B_ENST00000474880.1_3'UTR|ARPC1B_ENST00000252725.5_Missense_Mutation_p.E31V			Q92747	ARC1A_HUMAN	actin related protein 2/3 complex, subunit 1A, 41kDa	0					actin cytoskeleton organization|regulation of actin filament polymerization	actin cytoskeleton|cytoplasm	actin binding			endometrium(3)|large_intestine(5)|liver(2)|lung(7)|ovary(1)|prostate(1)	19	all_cancers(62;4.46e-09)|all_epithelial(64;3.44e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0258)		STAD - Stomach adenocarcinoma(171;0.215)			AACAACCATGAGGTGCATATC	0.567000													36	142					0	0	1	0	0
MYH13	8735	broad.mit.edu	37	17	10204939	10204939	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chr17:10204939C>T	ENST00000418404.3	-	39	5912	c.5749G>A	c.(5749-5751)Gct>Act	p.A1917T	RP11-401O9.4_ENST00000609088.1_RNA|MYH13_ENST00000252172.4_Missense_Mutation_p.A1917T			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1917					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TGGGACTCAGCGATGTCCGCC	0.602000													4	108					0	0	1	0	0
HR	55806	broad.mit.edu	37	8	21986639	21986639	+	Missense_Mutation	SNP	C	C	A			TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chr8:21986639C>A	ENST00000381418.4	-	2	1525	c.45G>T	c.(43-45)gaG>gaT	p.E15D	HR_ENST00000312841.8_Missense_Mutation_p.E15D	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated	15							DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		GGGCCGTCTTCTCCCAGGTTG	0.657000													4	78					0.150653	0.154328	1	1	0
EPB41L2	2037	broad.mit.edu	37	6	131215489	131215489	+	Missense_Mutation	SNP	G	G	C			TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chr6:131215489G>C	ENST00000337057.3	-	10	1663	c.1482C>G	c.(1480-1482)ttC>ttG	p.F494L	EPB41L2_ENST00000527659.1_Missense_Mutation_p.F494L|EPB41L2_ENST00000368128.2_Missense_Mutation_p.F494L|EPB41L2_ENST00000445890.2_Missense_Mutation_p.F494L|EPB41L2_ENST00000530481.1_Missense_Mutation_p.F494L|EPB41L2_ENST00000525193.1_Missense_Mutation_p.F494L|EPB41L2_ENST00000525271.1_Missense_Mutation_p.F494L|EPB41L2_ENST00000392427.3_Missense_Mutation_p.F494L|EPB41L2_ENST00000529208.1_Missense_Mutation_p.F494L|EPB41L2_ENST00000527411.1_Missense_Mutation_p.F494L|EPB41L2_ENST00000528282.1_Missense_Mutation_p.F494L	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	494	FERM.				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		ATTACCTGTAGAAAGTATGAT	0.493000													4	160					0	0	1	0	0
LARP1	23367	broad.mit.edu	37	5	154190842	154190842	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chr5:154190842A>G	ENST00000336314.4	+	17	2672	c.2648A>G	c.(2647-2649)tAt>tGt	p.Y883C		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	960							protein binding|RNA binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TACTACAGTTATGGCCTGGAA	0.448000													3	62					0	0	1	0	0
ADH1C	126	broad.mit.edu	37	4	100261040	100261041	+	RNA	INS	-	-	A	rs138827617	by1000genomes	TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chr4:100261040_100261041insA	ENST00000515683.1	-	0	1316					NM_000669.3	NP_000660.1	P00326	ADH1G_HUMAN	alcohol dehydrogenase 1C (class I), gamma polypeptide						ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Fomepizole(DB01213)|NADH(DB00157)	AGTGCTTTCACAAAAAAAATCA	0.327													2	4	---	---	---	---					
LA16c-23H5.4	0	broad.mit.edu	37	22	16419352	16419352	+	RNA	DEL	T	T	-			TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chr22:16419352delT	ENST00000444162.1	+	0	279																											GAATCGACGATTTTTTTTTTG	0.398													3	4	---	---	---	---					
ATRX	546	broad.mit.edu	37	X	76939883	76939883	+	Frame_Shift_Del	DEL	G	G	-			TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chrX:76939883delG	ENST00000373344.5	-	9	1079	c.865delC	c.(865-867)cagfs	p.Q289fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.Q251fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	289	ADD.				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TGCAACAACTGTTCTAAATTC	0.348			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						118	193	---	---	---	---					
