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
NOS2	4843	broad.mit.edu	37	17	26106045	26106045	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A9OY-01A-11D-A41K-08	TCGA-V1-A9OY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9454b4b6-985f-4e62-bbe9-1e61cf2e786b	7273e5ac-35e8-4188-bc14-ee745c353554	g.chr17:26106045C>T	ENST00000313735.6	-	10	1275	c.1042G>A	c.(1042-1044)Gcc>Acc	p.A348T		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	348					arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	GCAGGCAGGGCGTACCACTTT	0.502000													19	47					0	0	1	0	0
DCAF5	8816	broad.mit.edu	37	14	69521532	69521532	+	Missense_Mutation	SNP	T	T	C			TCGA-V1-A9OY-01A-11D-A41K-08	TCGA-V1-A9OY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9454b4b6-985f-4e62-bbe9-1e61cf2e786b	7273e5ac-35e8-4188-bc14-ee745c353554	g.chr14:69521532T>C	ENST00000341516.5	-	9	2018	c.1871A>G	c.(1870-1872)gAc>gGc	p.D624G	DCAF5_ENST00000556847.1_Missense_Mutation_p.D542G|DCAF5_ENST00000557386.1_Missense_Mutation_p.D623G|DCAF5_ENST00000554215.1_Missense_Mutation_p.D542G	NM_003861.2	NP_003852.1	Q96JK2	DCAF5_HUMAN	DDB1 and CUL4 associated factor 5	624						CUL4 RING ubiquitin ligase complex				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|upper_aerodigestive_tract(2)	29						GGAGGAGAGGTCATCCACTTT	0.522000													11	88					0	0	1	0	0
SLC16A3	9123	broad.mit.edu	37	17	80195392	80195392	+	Missense_Mutation	SNP	T	T	C			TCGA-V1-A9OY-01A-11D-A41K-08	TCGA-V1-A9OY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9454b4b6-985f-4e62-bbe9-1e61cf2e786b	7273e5ac-35e8-4188-bc14-ee745c353554	g.chr17:80195392T>C	ENST00000581287.1	+	3	3068	c.746T>C	c.(745-747)gTg>gCg	p.V249A	SLC16A3_ENST00000392339.1_Missense_Mutation_p.V249A|SLC16A3_ENST00000392341.1_Missense_Mutation_p.V249A|SLC16A3_ENST00000582743.1_Missense_Mutation_p.V249A	NM_001206951.1|NM_001206952.1	NP_001193880.1|NP_001193881.1	O15427	MOT4_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 3	249					blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process	actin cytoskeleton|integral to plasma membrane|membrane fraction|nuclear membrane	secondary active monocarboxylate transmembrane transporter activity|symporter activity			endometrium(2)|kidney(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9	Breast(20;0.00285)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0149)		Pyruvic acid(DB00119)	CCCGTGTTCGTGGTGAGCTAC	0.682000													7	34					0	0	1	0	0
PHYH	5264	broad.mit.edu	37	10	13325695	13325695	+	Missense_Mutation	SNP	G	G	A	rs104894178	byFrequency	TCGA-V1-A9OY-01A-11D-A41K-08	TCGA-V1-A9OY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9454b4b6-985f-4e62-bbe9-1e61cf2e786b	7273e5ac-35e8-4188-bc14-ee745c353554	g.chr10:13325695G>A	ENST00000396920.3	-	7	1176	c.772C>T	c.(772-774)Cgg>Tgg	p.R258W	PHYH_ENST00000396913.2_Missense_Mutation_p.R175W|PHYH_ENST00000263038.4_Missense_Mutation_p.R275W			O14832	PAHX_HUMAN	phytanoyl-CoA 2-hydroxylase	275					fatty acid alpha-oxidation|nervous system development	peroxisomal matrix	electron carrier activity|L-ascorbic acid binding|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|phytanoyl-CoA dioxygenase activity|protein binding			NS(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	25		Ovarian(717;0.0448)			Antihemophilic Factor(DB00025)|Vitamin C(DB00126)	CTTACCTTCCGGAATCCCTGG	0.423000													16	96					0	0	1	0	0
GTF2IRD2P1	0	broad.mit.edu	37	7	72664015	72664015	+	RNA	SNP	C	C	G			TCGA-V1-A9OY-01A-11D-A41K-08	TCGA-V1-A9OY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9454b4b6-985f-4e62-bbe9-1e61cf2e786b	7273e5ac-35e8-4188-bc14-ee745c353554	g.chr7:72664015C>G	ENST00000425256.1	-	0	885					NR_002164.1																						ATACCACCCCCGGGGCATGCC	0.507000													4	16					0	0	1	0	0
GNL3	26354	broad.mit.edu	37	3	52720844	52720844	+	Splice_Site	SNP	G	G	T			TCGA-V1-A9OY-01A-11D-A41K-08	TCGA-V1-A9OY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9454b4b6-985f-4e62-bbe9-1e61cf2e786b	7273e5ac-35e8-4188-bc14-ee745c353554	g.chr3:52720844G>T	ENST00000394799.2	+	2	246		c.e2+1		GNL3_ENST00000460073.1_Intron|GNL3_ENST00000418458.1_Splice_Site	NM_206825.1	NP_996561.1	Q9BVP2	GNL3_HUMAN	guanine nucleotide binding protein-like 3 (nucleolar)						regulation of cell proliferation	nucleolus	GTP binding|protein binding			breast(4)|endometrium(3)|large_intestine(3)|lung(2)	12				BRCA - Breast invasive adenocarcinoma(193;6.75e-05)|Kidney(197;0.000611)|KIRC - Kidney renal clear cell carcinoma(197;0.000773)|OV - Ovarian serous cystadenocarcinoma(275;0.048)		CCAAAAAAAGGTAAGTGTAGT	0.388000													7	32					3.09899e-07	3.25791e-07	1	1	0
GNL3	26354	broad.mit.edu	37	3	52720845	52720845	+	Splice_Site	SNP	T	T	C			TCGA-V1-A9OY-01A-11D-A41K-08	TCGA-V1-A9OY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9454b4b6-985f-4e62-bbe9-1e61cf2e786b	7273e5ac-35e8-4188-bc14-ee745c353554	g.chr3:52720845T>C	ENST00000394799.2	+	2	246		c.e2+2		GNL3_ENST00000460073.1_Intron|GNL3_ENST00000418458.1_Splice_Site	NM_206825.1	NP_996561.1	Q9BVP2	GNL3_HUMAN	guanine nucleotide binding protein-like 3 (nucleolar)						regulation of cell proliferation	nucleolus	GTP binding|protein binding			breast(4)|endometrium(3)|large_intestine(3)|lung(2)	12				BRCA - Breast invasive adenocarcinoma(193;6.75e-05)|Kidney(197;0.000611)|KIRC - Kidney renal clear cell carcinoma(197;0.000773)|OV - Ovarian serous cystadenocarcinoma(275;0.048)		CAAAAAAAGGTAAGTGTAGTG	0.388000													7	30					0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51947999	51947999	+	Missense_Mutation	SNP	G	G	A	rs137852944	byFrequency	TCGA-V1-A9OY-01A-11D-A41K-08	TCGA-V1-A9OY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9454b4b6-985f-4e62-bbe9-1e61cf2e786b	7273e5ac-35e8-4188-bc14-ee745c353554	g.chr6:51947999G>A	ENST00000371117.3	-	3	382	c.107C>T	c.(106-108)aCg>aTg	p.T36M	PKHD1_ENST00000340994.4_Missense_Mutation_p.T36M	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	36	IPT/TIG 1; atypical.		T -> M (in ARPKD; common mutation; dbSNP:rs28939383).		cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TGTGATCCACGTTCCCCCTGC	0.393000													4	75					0	0	1	0	0
CACNG2	10369	broad.mit.edu	37	22	36960572	36960572	+	Silent	SNP	C	C	T			TCGA-V1-A9OY-01A-11D-A41K-08	TCGA-V1-A9OY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9454b4b6-985f-4e62-bbe9-1e61cf2e786b	7273e5ac-35e8-4188-bc14-ee745c353554	g.chr22:36960572C>T	ENST00000300105.6	-	4	1779	c.798G>A	c.(796-798)acG>acA	p.T266T		NM_006078.3	NP_006069.1	Q9Y698	CCG2_HUMAN	calcium channel, voltage-dependent, gamma subunit 2	266					membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	18						TGGAGATCTCCGTGGACGGCA	0.667000													5	72					0	0	1	0	0
MLLT3	4300	broad.mit.edu	37	9	20414352	20414352	+	Silent	SNP	G	G	A			TCGA-V1-A9OY-01A-11D-A41K-08	TCGA-V1-A9OY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9454b4b6-985f-4e62-bbe9-1e61cf2e786b	7273e5ac-35e8-4188-bc14-ee745c353554	g.chr9:20414352G>A	ENST00000380338.4	-	5	778	c.492C>T	c.(490-492)agC>agT	p.S164S	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S161S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	164	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tactgctgctgctgctgctgc	0.537000			T	MLL	ALL								5	50					0	0	1	0	0
PER2	8864	broad.mit.edu	37	2	239181795	239181795	+	Missense_Mutation	SNP	C	C	G			TCGA-V1-A9OY-01A-11D-A41K-08	TCGA-V1-A9OY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9454b4b6-985f-4e62-bbe9-1e61cf2e786b	7273e5ac-35e8-4188-bc14-ee745c353554	g.chr2:239181795C>G	ENST00000254657.3	-	5	765	c.486G>C	c.(484-486)gaG>gaC	p.E162D	PER2_ENST00000440245.1_Missense_Mutation_p.E162D|PER2_ENST00000355768.2_Missense_Mutation_p.E162D|PER2_ENST00000254658.3_Missense_Mutation_p.E162D	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	162					circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		AGGGGTGACCCTCGCTGGACA	0.567000													3	34					0	0	1	0	0
MCMBP	79892	broad.mit.edu	37	10	121591577	121591577	+	Silent	SNP	G	G	A			TCGA-V1-A9OY-01A-11D-A41K-08	TCGA-V1-A9OY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9454b4b6-985f-4e62-bbe9-1e61cf2e786b	7273e5ac-35e8-4188-bc14-ee745c353554	g.chr10:121591577G>A	ENST00000360003.3	-	15	1918	c.1749C>T	c.(1747-1749)aaC>aaT	p.N583N	MCMBP_ENST00000466047.1_5'UTR|MCMBP_ENST00000369077.3_Silent_p.N581N	NM_001256378.1|NM_001256379.1|NM_024834.3	NP_001243307.1|NP_001243308.1|NP_079110.1	Q9BTE3	MCMBP_HUMAN	minichromosome maintenance complex binding protein	583					cell division|DNA-dependent DNA replication|mitosis|S phase of mitotic cell cycle|sister chromatid cohesion	nucleus	chromatin binding			breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(2)|skin(2)	21						TCTGAGGGTCGTTCTTCCGCA	0.423000													10	44					0	0	1	0	0
PDP1	54704	broad.mit.edu	37	8	94934324	94934324	+	Missense_Mutation	SNP	C	C	G			TCGA-V1-A9OY-01A-11D-A41K-08	TCGA-V1-A9OY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9454b4b6-985f-4e62-bbe9-1e61cf2e786b	7273e5ac-35e8-4188-bc14-ee745c353554	g.chr8:94934324C>G	ENST00000396200.3	+	3	388	c.112C>G	c.(112-114)Cgt>Ggt	p.R38G	PDP1_ENST00000517764.1_Missense_Mutation_p.R13G|PDP1_ENST00000520728.1_Missense_Mutation_p.R13G|PDP1_ENST00000297598.4_Missense_Mutation_p.R13G	NM_001161779.1	NP_001155251.1	Q9P0J1	PDP1_HUMAN	pyruvate dehyrogenase phosphatase catalytic subunit 1	13					pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|protein serine/threonine phosphatase complex	[pyruvate dehydrogenase (lipoamide)] phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18						TCCTCTCATCCGTAACTGTGA	0.473000													10	56					0	0	1	0	0
CLASP2	23122	broad.mit.edu	37	3	33557515	33557515	+	Splice_Site	SNP	C	C	T			TCGA-V1-A9OY-01A-11D-A41K-08	TCGA-V1-A9OY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9454b4b6-985f-4e62-bbe9-1e61cf2e786b	7273e5ac-35e8-4188-bc14-ee745c353554	g.chr3:33557515C>T	ENST00000399362.4	-	36	4484	c.4131_splice	c.e36+1	p.E1377_splice	CLASP2_ENST00000307312.7_Splice_Site_p.E859_splice|CLASP2_ENST00000480013.1_Splice_Site_p.E1157_splice|CLASP2_ENST00000359576.5_Splice_Site_p.E1369_splice|CLASP2_ENST00000539981.1_3'UTR|CLASP2_ENST00000461133.3_Splice_Site_p.E1137_splice|CLASP2_ENST00000468888.2_Splice_Site_p.E1378_splice	NM_015097.2	NP_055912.2	B2RTR1	B2RTR1_HUMAN	cytoplasmic linker associated protein 2	1379										breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						GGTAACTTACCTCCTTATGAG	0.318000													4	18					0	0	1	0	0
CACNG5	27091	broad.mit.edu	37	17	64880940	64880940	+	Nonsense_Mutation	SNP	C	C	A			TCGA-V1-A9OY-01A-11D-A41K-08	TCGA-V1-A9OY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9454b4b6-985f-4e62-bbe9-1e61cf2e786b	7273e5ac-35e8-4188-bc14-ee745c353554	g.chr17:64880940C>A	ENST00000169565.3	+	4	732	c.732C>A	c.(730-732)taC>taA	p.Y244*	CACNG5_ENST00000533854.1_Intron|CACNG5_ENST00000307139.3_Intron			Q9UF02	CCG5_HUMAN	calcium channel, voltage-dependent, gamma subunit 5	0				SAGVMSVYLFMKRYTAEDMYRPHPGFYRPRLSNCSDYSGQF LHPDAWVRGRSPSDISSEASLQMNSNYPALLKCPDYDQMSS SPC -> VKPVTLSMDRLGLGTAPLSRGEWGWGRRDIPQPF WTPDHPLYFPSSSQNVSLSYLSGSPPARMSPGPCSCPHVHF PPHSSCVLCRPQPREMRQAPAASPSSAVFSL (in Ref. 1; AAF03089).	regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|postsynaptic density|postsynaptic membrane	voltage-gated calcium channel activity			NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	24			BRCA - Breast invasive adenocarcinoma(6;1.61e-08)			CACTGTCTTACCTTTCTGGGT	0.602000													17	40					3.52763e-06	3.61582e-06	1	1	0
ADAMTS8	11095	broad.mit.edu	37	11	130281313	130281313	+	Splice_Site	SNP	G	G	A			TCGA-V1-A9OY-01A-11D-A41K-08	TCGA-V1-A9OY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9454b4b6-985f-4e62-bbe9-1e61cf2e786b	7273e5ac-35e8-4188-bc14-ee745c353554	g.chr11:130281313G>A	ENST00000257359.6	-	6	2455	c.1750_splice	c.e6+1	p.D583_splice		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	583	Cys-rich.				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding	p.D583D(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		GGTAATTACCGTCAGGGGGGC	0.582000													3	23					0	0	1	0	0
MAP7D1	55700	broad.mit.edu	37	1	36641841	36641841	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A9OY-01A-11D-A41K-08	TCGA-V1-A9OY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9454b4b6-985f-4e62-bbe9-1e61cf2e786b	7273e5ac-35e8-4188-bc14-ee745c353554	g.chr1:36641841G>A	ENST00000316156.4	+	6	1234	c.781G>A	c.(781-783)Gat>Aat	p.D261N	MAP7D1_ENST00000474796.1_3'UTR|MAP7D1_ENST00000373151.2_Missense_Mutation_p.D298N|MAP7D1_ENST00000373150.4_Missense_Mutation_p.D298N			Q3KQU3	MA7D1_HUMAN	MAP7 domain containing 1	298						cytoplasm|spindle				breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	19		Myeloproliferative disorder(586;0.0393)				CAGCATCGTGGATCGTCTGAT	0.677000													5	6					0	0	1	0	0
EMR2	30817	broad.mit.edu	37	19	14866467	14866467	+	Splice_Site	SNP	C	C	T	rs142367407		TCGA-V1-A9OY-01A-11D-A41K-08	TCGA-V1-A9OY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9454b4b6-985f-4e62-bbe9-1e61cf2e786b	7273e5ac-35e8-4188-bc14-ee745c353554	g.chr19:14866467C>T	ENST00000315576.3	-	13	1866	c.1416_splice	c.e13+1	p.R472_splice	EMR2_ENST00000392967.2_Splice_Site_p.R461_splice|EMR2_ENST00000392964.3_Intron|EMR2_ENST00000353876.1_Splice_Site_p.R379_splice|EMR2_ENST00000595839.1_Splice_Site_p.R330_splice|EMR2_ENST00000596991.2_Splice_Site_p.R461_splice|EMR2_ENST00000594294.1_Splice_Site_p.R423_splice|EMR2_ENST00000594076.1_Splice_Site_p.R379_splice|EMR2_ENST00000353005.1_Splice_Site_p.R330_splice|EMR2_ENST00000346057.1_Splice_Site_p.R423_splice|EMR2_ENST00000392965.3_Splice_Site_p.R472_splice|EMR2_ENST00000601345.1_Splice_Site_p.R461_splice	NM_013447.2	NP_038475.2	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 2	472					cell adhesion|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						AGCACTCACACGGTGGGAGAA	0.577000													12	67					0	0	1	0	0
KRTAP9-4	85280	broad.mit.edu	37	17	39406130	39406130	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A9OY-01A-11D-A41K-08	TCGA-V1-A9OY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9454b4b6-985f-4e62-bbe9-1e61cf2e786b	7273e5ac-35e8-4188-bc14-ee745c353554	g.chr17:39406130G>A	ENST00000334109.2	+	1	192	c.158G>A	c.(157-159)cGc>cAc	p.R53H		NM_033191.2	NP_149461.2	Q9BYQ2	KRA94_HUMAN	keratin associated protein 9-4	53	15 X 5 AA repeats of C-C-[RQVGE]-[SPTN]- [TASPF].					keratin filament		p.R53H(4)		breast(1)|large_intestine(1)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			CCTTGCTGCCGCCCAACTTGC	0.642000													4	69					0	0	1	0	0
TUBB8P7	0	broad.mit.edu	37	16	90162513	90162513	+	RNA	SNP	T	T	C			TCGA-V1-A9OY-01A-11D-A41K-08	TCGA-V1-A9OY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9454b4b6-985f-4e62-bbe9-1e61cf2e786b	7273e5ac-35e8-4188-bc14-ee745c353554	g.chr16:90162513T>C	ENST00000567960.1	+	0	1249				TUBB8P7_ENST00000564451.1_RNA														p.N415N(2)									GCAACATGAATGACCTGGTGT	0.537000													4	95					0	0	1	0	0
GPHN	10243	broad.mit.edu	37	14	67555762	67555762	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A9OY-01A-11D-A41K-08	TCGA-V1-A9OY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9454b4b6-985f-4e62-bbe9-1e61cf2e786b	7273e5ac-35e8-4188-bc14-ee745c353554	g.chr14:67555762G>A	ENST00000478722.1	+	12	2328	c.1207G>A	c.(1207-1209)Gca>Aca	p.A403T	GPHN_ENST00000543237.1_Missense_Mutation_p.A416T|GPHN_ENST00000315266.5_Missense_Mutation_p.A370T|GPHN_ENST00000544752.2_3'UTR|GPHN_ENST00000305960.9_Missense_Mutation_p.A339T	NM_020806.4	NP_065857.1	Q9NQX3	GEPH_HUMAN	gephyrin	370	MPT adenylyltransferase.				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cell junction|cytoplasm|cytoskeleton|postsynaptic membrane	ATP binding|metal ion binding|nucleotidyltransferase activity			large_intestine(8)|liver(1)|ovary(2)|stomach(1)	12		all_cancers(7;0.0476)|all_hematologic(31;0.0116)		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)		CCCCTTCCCAGCATCAGTAAA	0.348000			T	MLL	AL								16	41					0	0	1	0	0
SPOP	8405	broad.mit.edu	37	17	47679302	47679302	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A9OY-01A-11D-A41K-08	TCGA-V1-A9OY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9454b4b6-985f-4e62-bbe9-1e61cf2e786b	7273e5ac-35e8-4188-bc14-ee745c353554	g.chr17:47679302G>A	ENST00000393331.3	-	11	1375	c.905C>T	c.(904-906)gCt>gTt	p.A302V	SPOP_ENST00000393328.2_Missense_Mutation_p.A302V|SPOP_ENST00000347630.2_Missense_Mutation_p.A302V|SPOP_ENST00000504102.1_Missense_Mutation_p.A302V|SPOP_ENST00000503676.1_Missense_Mutation_p.A302V	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN	speckle-type POZ protein	302	Homodimerization.				mRNA processing	nucleus	protein binding			endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						AATTTCTGCAGCGTTCTCCAC	0.488000										Prostate(2;0.17)			4	92					0	0	1	0	0
HTR1E	3354	broad.mit.edu	37	6	87725081	87725081	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A9OY-01A-11D-A41K-08	TCGA-V1-A9OY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9454b4b6-985f-4e62-bbe9-1e61cf2e786b	7273e5ac-35e8-4188-bc14-ee745c353554	g.chr6:87725081C>T	ENST00000305344.4	+	2	732	c.29C>T	c.(28-30)gCc>gTc	p.A10V	HTR1E_ENST00000369584.1_Missense_Mutation_p.A10V	NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	10					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity			breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Eletriptan(DB00216)	ACCACAGAGGCCAGCATGGCT	0.468000													6	20					0	0	1	0	0
L3MBTL3	84456	broad.mit.edu	37	6	130387569	130387569	+	Silent	SNP	C	C	T	rs139205810	byFrequency	TCGA-V1-A9OY-01A-11D-A41K-08	TCGA-V1-A9OY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9454b4b6-985f-4e62-bbe9-1e61cf2e786b	7273e5ac-35e8-4188-bc14-ee745c353554	g.chr6:130387569C>T	ENST00000529410.1	+	13	1415	c.936C>T	c.(934-936)gaC>gaT	p.D312D	L3MBTL3_ENST00000361794.2_Silent_p.D312D|L3MBTL3_ENST00000368136.2_Silent_p.D312D|L3MBTL3_ENST00000368139.2_Silent_p.D287D|L3MBTL3_ENST00000526019.1_Silent_p.D287D|L3MBTL3_ENST00000533560.1_Silent_p.D287D			Q96JM7	LMBL3_HUMAN	l(3)mbt-like 3 (Drosophila)	312					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1)	43				GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)		TGAATGCAGACGCTCTGGATA	0.403000													18	79					0	0	1	0	0
SPEN	23013	broad.mit.edu	37	1	16257885	16257885	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A9OY-01A-11D-A41K-08	TCGA-V1-A9OY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9454b4b6-985f-4e62-bbe9-1e61cf2e786b	7273e5ac-35e8-4188-bc14-ee745c353554	g.chr1:16257885C>T	ENST00000375759.3	+	11	5354	c.5150C>T	c.(5149-5151)gCg>gTg	p.A1717V		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	1717					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		ATGATGCCTGCGGGTGTTGAG	0.582000													25	109					0	0	1	0	0
GMPPB	29925	broad.mit.edu	37	3	49759417	49759417	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A9OY-01A-11D-A41K-08	TCGA-V1-A9OY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9454b4b6-985f-4e62-bbe9-1e61cf2e786b	7273e5ac-35e8-4188-bc14-ee745c353554	g.chr3:49759417C>T	ENST00000480687.1	-	9	1048	c.932G>A	c.(931-933)cGc>cAc	p.R311H	GMPPB_ENST00000308388.6_Missense_Mutation_p.R311H|GMPPB_ENST00000308375.6_Missense_Mutation_p.R311H|AMIGO3_ENST00000535833.1_5'UTR			Q9Y5P6	GMPPB_HUMAN	GDP-mannose pyrophosphorylase B	311					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine		GTP binding|mannose-1-phosphate guanylyltransferase activity			endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CACGCGGCAGCGCCAGCCCAC	0.662000													6	25					0	0	1	0	0
PODNL1	79883	broad.mit.edu	37	19	14043545	14043545	+	Silent	SNP	G	G	A			TCGA-V1-A9OY-01A-11D-A41K-08	TCGA-V1-A9OY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9454b4b6-985f-4e62-bbe9-1e61cf2e786b	7273e5ac-35e8-4188-bc14-ee745c353554	g.chr19:14043545G>A	ENST00000538517.2	-	6	1483	c.1239C>T	c.(1237-1239)caC>caT	p.H413H	PODNL1_ENST00000254320.3_Silent_p.H422H|PODNL1_ENST00000538371.2_Silent_p.H502H|PODNL1_ENST00000339560.5_Silent_p.H504H	NM_001146255.1	NP_001139727.1	Q6PEZ8	PONL1_HUMAN	podocan-like 1	504	Leu-rich.					proteinaceous extracellular matrix				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(19;5.26e-23)			TGTTTGGGACGTGGCAGGGCA	0.577000													4	72					0	0	1	0	0
CAPN2	824	broad.mit.edu	37	1	223900386	223900386	+	Frame_Shift_Del	DEL	C	C	-			TCGA-V1-A9OY-01A-11D-A41K-08	TCGA-V1-A9OY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9454b4b6-985f-4e62-bbe9-1e61cf2e786b	7273e5ac-35e8-4188-bc14-ee745c353554	g.chr1:223900386delC	ENST00000295006.5	+	1	353	c.44delC	c.(43-45)gcfs	p.A15fs	CAPN2_ENST00000433674.2_Intron	NM_001748.4	NP_001739.2	P17655	CAN2_HUMAN	calpain 2, (m/II) large subunit	15					proteolysis	cytoplasm|plasma membrane				breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|stomach(3)	29				GBM - Glioblastoma multiforme(131;0.109)		CGGGAGGCGGCCGAGGGGCTG	0.711													2	4	---	---	---	---					
SRGAP3	9901	broad.mit.edu	37	3	9032419	9032420	+	Frame_Shift_Ins	INS	-	-	G			TCGA-V1-A9OY-01A-11D-A41K-08	TCGA-V1-A9OY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9454b4b6-985f-4e62-bbe9-1e61cf2e786b	7273e5ac-35e8-4188-bc14-ee745c353554	g.chr3:9032419_9032420insG	ENST00000383836.3	-	21	3089_3090	c.2662_2663insC	c.(2662-2664)ggcfs	p.G888fs	SRGAP3_ENST00000360413.3_Frame_Shift_Ins_p.G864fs	NM_014850.3	NP_055665.1	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	888					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		GGCAGCAGCCCGGGGTGGTGTG	0.703			T	RAF1	pilocytic astrocytoma								3	5	---	---	---	---					
DBR1	51163	broad.mit.edu	37	3	137880741	137880743	+	In_Frame_Del	DEL	TCG	TCG	-	rs2622736	byFrequency	TCGA-V1-A9OY-01A-11D-A41K-08	TCGA-V1-A9OY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9454b4b6-985f-4e62-bbe9-1e61cf2e786b	7273e5ac-35e8-4188-bc14-ee745c353554	g.chr3:137880741_137880743delTCG	ENST00000260803.4	-	8	1776_1778	c.1623_1625delCGA	c.(1621-1626)gat>ga	p.DD541del	DBR1_ENST00000505015.2_In_Frame_Del_p.DD307del	NM_016216.3	NP_057300.2	Q9UK59	DBR1_HUMAN	debranching RNA lariats 1	541						nucleus	metal ion binding|RNA lariat debranching enzyme activity			NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						TTAAGCTGCATCGTCATCATCAT	0.394													7	97	---	---	---	---					
CTC-467M3.1	0	broad.mit.edu	37	5	87980814	87980816	+	RNA	DEL	GAG	GAG	-			TCGA-V1-A9OY-01A-11D-A41K-08	TCGA-V1-A9OY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9454b4b6-985f-4e62-bbe9-1e61cf2e786b	7273e5ac-35e8-4188-bc14-ee745c353554	g.chr5:87980814_87980816delGAG	ENST00000510274.1	+	0	46																											ggaggaggaagaggaggaggagg	0.581													2	4	---	---	---	---					
MCC	4163	broad.mit.edu	37	5	112824048	112824049	+	In_Frame_Ins	INS	-	-	GCC	rs35336557		TCGA-V1-A9OY-01A-11D-A41K-08	TCGA-V1-A9OY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9454b4b6-985f-4e62-bbe9-1e61cf2e786b	7273e5ac-35e8-4188-bc14-ee745c353554	g.chr5:112824048_112824049insGCC	ENST00000408903.3	-	1	478_479	c.63_64insGGC	c.(61-66)gggcgg>ggGGCgcgg	p.21_22GR>GAR		NM_001085377.1	NP_001078846.1	P23508	CRCM_HUMAN	mutated in colorectal cancers	549					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		ctgctgccgctgccgccgccgc	0.738													5	9	---	---	---	---					
MUC17	140453	broad.mit.edu	37	7	100684307	100684308	+	In_Frame_Ins	INS	-	-	CTC			TCGA-V1-A9OY-01A-11D-A41K-08	TCGA-V1-A9OY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9454b4b6-985f-4e62-bbe9-1e61cf2e786b	7273e5ac-35e8-4188-bc14-ee745c353554	g.chr7:100684307_100684308insCTC	ENST00000306151.4	+	3	9674_9675	c.9610_9611insCTC	c.(9610-9612)tac>CTCtac	p.3203_3204insL		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3203	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AGCCACTTCATCTACAACTGCT	0.500													7	263	---	---	---	---					
USHBP1	83878	broad.mit.edu	37	19	17375158	17375158	+	Splice_Site	DEL	T	T	-			TCGA-V1-A9OY-01A-11D-A41K-08	TCGA-V1-A9OY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9454b4b6-985f-4e62-bbe9-1e61cf2e786b	7273e5ac-35e8-4188-bc14-ee745c353554	g.chr19:17375158delT	ENST00000252597.3	-	2	126		c.e2-2		USHBP1_ENST00000598570.1_Splice_Site|USHBP1_ENST00000431146.2_Splice_Site	NM_031941.3	NP_114147.2	Q8N6Y0	USBP1_HUMAN	Usher syndrome 1C binding protein 1								PDZ domain binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						CGTCAACCCCTAAAACCACAG	0.582													3	3	---	---	---	---					
PQBP1	10084	broad.mit.edu	37	X	48759668	48759669	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-V1-A9OY-01A-11D-A41K-08	TCGA-V1-A9OY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9454b4b6-985f-4e62-bbe9-1e61cf2e786b	7273e5ac-35e8-4188-bc14-ee745c353554	g.chrX:48759668_48759669delAG	ENST00000218224.4	+	4	705_706	c.451_452delAG	c.(451-453)afs	p.R151fs	PQBP1_ENST00000396763.1_Frame_Shift_Del_p.R151fs|PQBP1_ENST00000376563.1_Frame_Shift_Del_p.R151fs|PQBP1_ENST00000376566.4_Intron|PQBP1_ENST00000247140.4_Intron|PQBP1_ENST00000447146.2_Frame_Shift_Del_p.R151fs|PQBP1_ENST00000473764.1_3'UTR	NM_005710.2	NP_005701.1	O60828	PQBP1_HUMAN	polyglutamine binding protein 1	151	7 X 2 AA tandem repeats of [DE]-R.|Arg-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|transcription coactivator activity			breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(2)	11						CAAGGTAGACAGAGAGAGAGAG	0.619													2	4	---	---	---	---					
ATRX	546	broad.mit.edu	37	X	76938946	76938956	+	Frame_Shift_Del	DEL	TTAATTGGGGA	TTAATTGGGGA	-			TCGA-V1-A9OY-01A-11D-A41K-08	TCGA-V1-A9OY-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9454b4b6-985f-4e62-bbe9-1e61cf2e786b	7273e5ac-35e8-4188-bc14-ee745c353554	g.chrX:76938946_76938956delTTAATTGGGGA	ENST00000373344.5	-	9	2006_2016	c.1792_1802delTCCCCAATTAA	c.(1792-1803)afs	p.SPIK598fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.SPIK560fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	598					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)	ATCAGCACCTTTAATTGGGGAATTAGAAAGG	0.355			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						58	121	---	---	---	---					
