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
BRE	9577	broad.mit.edu	37	2	28117448	28117448	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr2:28117448C>T	uc002rls.3	+	1	277	c.25C>T	c.(25-27)Cga>Tga	p.R9*	BRE_uc002rlp.1_Nonsense_Mutation_p.R9*|BRE_uc002rlq.3_Nonsense_Mutation_p.R9*|BRE_uc002rlr.3_Nonsense_Mutation_p.R9*|BRE_uc002rlt.3_Nonsense_Mutation_p.R9*|BRE_uc002rlu.3_Nonsense_Mutation_p.R9*	NM_004899	NP_004890	Q9NXR7	BRE_HUMAN	Homo sapiens brain and reproductive organ-expressed (TNFRSF1A modulator) (BRE), transcript variant 1, mRNA.	9					G2/M transition DNA damage checkpoint|apoptosis|chromatin modification|double-strand break repair|positive regulation of DNA repair|positive regulation of anti-apoptosis|response to ionizing radiation|signal transduction	BRCA1-A complex|BRISC complex|cytoplasm|nuclear ubiquitin ligase complex	peroxisome targeting sequence binding|polyubiquitin binding|tumor necrosis factor receptor binding	p.R9*(3)|p.R9L(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(2)	23	Acute lymphoblastic leukemia(172;0.155)					GGCCTTGAACCGAATATCTCC	0.418000													80	268					0	0	1	0	0
OR4A15	81328	broad.mit.edu	37	11	55135714	55135714	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr11:55135714A>T	uc010rif.2	+	0	355	c.355A>T	c.(355-357)Acc>Tcc	p.T119S		NM_001005275	NP_001005275	Q8NGL6	O4A15_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 15 (OR4A15), mRNA.	119					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T119S(2)|p.T119I(1)		NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						TGAGAAAAAGACCATTTCCTT	0.388000													11	364					0	0	1	0	0
LRRC49	54839	broad.mit.edu	37	15	71305231	71305231	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr15:71305231T>C	uc010ukf.2	+	13	2003	c.1697T>C	c.(1696-1698)aTt>aCt	p.I566T	LRRC49_uc002asu.3_Missense_Mutation_p.I551T|LRRC49_uc002asx.3_Missense_Mutation_p.I517T|LRRC49_uc002asw.3_Missense_Mutation_p.I561T|LRRC49_uc002asy.3_Missense_Mutation_p.I267T|LRRC49_uc002asz.3_Missense_Mutation_p.I533T	NM_001199017	NP_001185946	Q8IUZ0	LRC49_HUMAN	Homo sapiens leucine rich repeat containing 49 (LRRC49), transcript variant 1, mRNA.	561						cytoplasm|microtubule		p.I561T(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						TATCGTCTGATTTCCATTCTG	0.373000													44	146					0	0	1	0	0
DMXL2	23312	broad.mit.edu	37	15	51750826	51750826	+	Splice_Site	SNP	T	T	C			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr15:51750826T>C	uc010ufy.2	-	35	8239	c.8014_splice	c.e35-1	p.A2672_splice	DMXL2_uc002abd.3_Splice_Site_p.A763_splice|DMXL2_uc002abf.3_Splice_Site_p.A2671_splice|DMXL2_uc010bfa.3_Splice_Site_p.A2035_splice	NM_001174116	NP_001167587	Q8TDJ6	DMXL2_HUMAN	Homo sapiens Dmx-like 2 (DMXL2), transcript variant 1, mRNA.	2671						cell junction|synaptic vesicle membrane	Rab GTPase binding	p.?(1)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		ACAATTTGCCTATAAAGCAAA	0.348000													32	79					0	0	1	0	0
NAV3	89795	broad.mit.edu	37	12	78515855	78515855	+	Silent	SNP	G	G	T			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr12:78515855G>T	uc001syp.3	+	15	4058	c.3885G>T	c.(3883-3885)acG>acT	p.T1295T	NAV3_uc001syo.3_Silent_p.T1295T|NAV3_uc010sub.2_Silent_p.T795T|NAV3_uc009zsf.3_Intron	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	Homo sapiens neuron navigator 3 (NAV3), mRNA.	1295	Ser-rich.					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	p.T1295T(3)|p.G1294S(1)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CGTCCGGTACGGGCAGCATGG	0.532000										HNSCC(70;0.22)			3	69					0	0	1	0	0
LRRC7	57554	broad.mit.edu	37	1	70502287	70502287	+	Silent	SNP	T	T	C			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr1:70502287T>C	uc001dep.3	+	17	2184	c.2154T>C	c.(2152-2154)caT>caC	p.H718H	LRRC7_uc009wbg.3_Intron|LRRC7_uc001deq.3_5'UTR	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	Homo sapiens leucine rich repeat containing 7 (LRRC7), mRNA.	718						centrosome|focal adhesion|nucleolus	protein binding	p.H718H(2)|p.V717L(2)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						ATGCAGTACATAATTCTTTGT	0.413000													7	169					0	0	1	0	0
OR5AS1	219447	broad.mit.edu	37	11	55798451	55798451	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr11:55798451C>T	uc010riw.2	+	0	557	c.557C>T	c.(556-558)gCt>gTt	p.A186V		NM_001001921	NP_001001921	Q8N127	O5AS1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AS, member 1 (OR5AS1), mRNA.	186					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A186V(2)		endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					CCTCTTCTGGCTTTATCATGT	0.418000													7	574					0	0	1	0	0
IFIT1	3434	broad.mit.edu	37	10	91162072	91162072	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr10:91162072C>A	uc001kgi.3	+	1	188	c.40C>A	c.(40-42)Ctg>Atg	p.L14M	LIPA_uc001kgb.4_Intron|LIPA_uc001kgc.4_Intron|IFIT1_uc009xtt.3_Missense_Mutation_p.L14M|IFIT1_uc001kgj.3_5'UTR	NM_001548	NP_001539	P09914	IFIT1_HUMAN	Homo sapiens interferon-induced protein with tetratricopeptide repeats 1 (IFIT1), transcript variant 2, mRNA.	14					cellular response to exogenous dsRNA|intracellular transport of viral proteins in host cell|negative regulation of defense response to virus by host|negative regulation of helicase activity|negative regulation of protein binding|negative regulation of viral genome replication|positive regulation of viral genome replication|response to virus|type I interferon-mediated signaling pathway	cytoplasm	protein binding	p.L14M(2)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	15						CAAGGATAGTCTGGAGCAATT	0.353000													17	144					0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40383986	40383986	+	Silent	SNP	G	G	A			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr19:40383986G>A	uc002omp.4	-	20	9632	c.9624C>T	c.(9622-9624)tgC>tgT	p.C3208C		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	3208	TIL 7.					extracellular region	protein binding	p.C3208C(2)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CCCAGCAGCCGCAGCCGTTGT	0.667000													7	30					0	0	1	0	0
LOC283788	283788	broad.mit.edu	37	GL000219.1	83307	83307	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chrGL000219.1:83307G>T	uc022brb.1	-	3	360	c.47C>A	c.(46-48)gCt>gAt	p.A16D	LOC283788_uc011mfq.2_Non-coding_Transcript					Homo sapiens FSHD region gene 1 pseudogene (LOC283788), non-coding RNA.																		GGCCAACAAAGCCATTTTCCC	0.373000													5	65					0	0	1	0	0
SLC28A1	9154	broad.mit.edu	37	15	85467288	85467288	+	Missense_Mutation	SNP	G	G	A	rs141708518		TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr15:85467288G>A	uc002blg.3	+	11	1232	c.1030G>A	c.(1030-1032)Gga>Aga	p.G344R	SLC28A1_uc010upd.1_Missense_Mutation_p.G266R|SLC28A1_uc010bnb.3_Missense_Mutation_p.G344R|SLC28A1_uc010upe.2_Missense_Mutation_p.G344R|SLC28A1_uc010upf.1_Missense_Mutation_p.G344R|SLC28A1_uc010upg.1_Missense_Mutation_p.G344R	NM_004213	NP_004204	O00337	S28A1_HUMAN	Homo sapiens solute carrier family 28 (sodium-coupled nucleoside transporter), member 1 (SLC28A1), transcript variant 1, mRNA.	344					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding	p.G344R(2)		breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)			TGTCATGACCGGAGGTTACGC	0.552000													3	103					0	0	1	0	0
SLC25A27	9481	broad.mit.edu	37	6	46623671	46623671	+	Silent	SNP	C	C	A			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr6:46623671C>A	uc003oyh.3	+	1	476	c.198C>A	c.(196-198)gcC>gcA	p.A66A	SLC25A27_uc011dwb.2_Silent_p.A66A|SLC25A27_uc003oyg.3_Silent_p.A66A|SLC25A27_uc011dwc.2_5'UTR|SLC25A27_uc003oyi.3_5'Flank	NM_004277	NP_004268	O95847	UCP4_HUMAN	Homo sapiens solute carrier family 25, member 27 (SLC25A27), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	66					generation of precursor metabolites and energy|transport	integral to membrane|mitochondrial inner membrane		p.A66A(2)		central_nervous_system(1)|kidney(1)|lung(4)|prostate(1)|urinary_tract(1)	8			Lung(136;0.192)			GAGAATCTGCCCCCTATAGGG	0.502000													4	140					0	0	1	0	0
LIMK2	3985	broad.mit.edu	37	22	31662009	31662009	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr22:31662009G>T	uc003akh.3	+	7	1077	c.932G>T	c.(931-933)cGc>cTc	p.R311L	LIMK2_uc003aki.3_Missense_Mutation_p.R65L|LIMK2_uc003akj.3_Missense_Mutation_p.R290L|LIMK2_uc003akk.3_Missense_Mutation_p.R290L|LIMK2_uc011aln.2_Missense_Mutation_p.R228L	NM_005569	NP_005560	P53671	LIMK2_HUMAN	Homo sapiens LIM domain kinase 2 (LIMK2), transcript variant 2a, mRNA.	311						mitochondrion|nucleus	ATP binding|protein serine/threonine kinase activity|zinc ion binding	p.R311L(3)		endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						GACATCAGCCGCTCAGAATCC	0.582000													3	98					0	0	1	0	0
MYH7	4625	broad.mit.edu	37	14	23885344	23885344	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr14:23885344G>A	uc001wjx.3	-	33	4928	c.4822C>T	c.(4822-4824)Cgc>Tgc	p.R1608C		NM_000257	NP_000248	P12883	MYH7_HUMAN	Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA.	1608					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.R1608C(2)|p.S1607S(1)		NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GCCTCGTTGCGGCTGCGTGTC	0.622000													58	118					0	0	1	0	0
FAM124A	220108	broad.mit.edu	37	13	51826251	51826251	+	Missense_Mutation	SNP	G	G	C	rs146463367		TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr13:51826251G>C	uc001vff.2	+	3	1024	c.856G>C	c.(856-858)Gtg>Ctg	p.V286L	FAM124A_uc001vfe.3_Missense_Mutation_p.V250L|FAM124A_uc001vfg.2_Missense_Mutation_p.V250L	NM_145019	NP_659456	Q86V42	F124A_HUMAN	Homo sapiens family with sequence similarity 124A (FAM124A), transcript variant 1, mRNA.	250								p.V286L(2)|p.L285L(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|skin(1)	26		Acute lymphoblastic leukemia(7;0.000334)|Breast(56;0.00156)|Prostate(109;0.00538)|Lung NSC(96;0.0216)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;4.25e-07)		AGGCGAGCTCGTGCCTCTCCT	0.632000													9	36					0	0	1	0	0
UACA	55075	broad.mit.edu	37	15	70960502	70960502	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr15:70960502T>C	uc002asr.3	-	15	2625	c.2521A>G	c.(2521-2523)Ata>Gta	p.I841V	UACA_uc010uke.2_Missense_Mutation_p.I732V|UACA_uc002asq.3_Missense_Mutation_p.I828V|UACA_uc010bin.1_Missense_Mutation_p.I816V	NM_018003	NP_060473	Q9BZF9	UACA_HUMAN	Homo sapiens uveal autoantigen with coiled-coil domains and ankyrin repeats (UACA), transcript variant 1, mRNA.	841						cytoskeleton|extracellular region		p.I828V(1)		breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						AGAGCGTGTATTTTCTCCTGG	0.348000													38	162					0	0	1	0	0
DCLK3	85443	broad.mit.edu	37	3	36778888	36778888	+	Silent	SNP	G	G	A			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr3:36778888G>A	uc003cgi.2	-	1	1754	c.1263C>T	c.(1261-1263)taC>taT	p.Y421Y		NM_033403	NP_208382	Q9C098	DCLK3_HUMAN	Homo sapiens doublecortin-like kinase 3 (DCLK3), mRNA.	421	Protein kinase.					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	p.Y421Y(2)		breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						TGTCTGTTTCGTAGACTTCAT	0.502000													19	95					0	0	1	0	0
PRKAG3	53632	broad.mit.edu	37	2	219691759	219691759	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr2:219691759C>T	uc002vjb.1	-	9	1079	c.1060G>A	c.(1060-1062)Ggc>Agc	p.G354S	PRKAG3_uc010zkn.1_Non-coding_Transcript|PRKAG3_uc010fvy.1_Silent_p.S395S	NM_017431	NP_059127	Q9UGI9	AAKG3_HUMAN	Homo sapiens protein kinase, AMP-activated, gamma 3 non-catalytic subunit (PRKAG3), mRNA.	354					cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|intracellular protein kinase cascade|regulation of fatty acid oxidation	cytosol	AMP-activated protein kinase activity|protein kinase binding	p.G354S(2)		large_intestine(7)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CGGAATGTGCCGATGCCCAAA	0.597000													38	143					0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48315047	48315047	+	Silent	SNP	C	C	T			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr7:48315047C>T	uc003toq.2	+	16	5808	c.5784C>T	c.(5782-5784)gtC>gtT	p.V1928V	ABCA13_uc010kyr.2_Silent_p.V1431V|ABCA13_uc022acp.1_Silent_p.V427V	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	1928					transport	integral to membrane	ATP binding|ATPase activity	p.V1928V(2)|p.V1873V(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TACCGTTTGTCCCACCTTCAA	0.363000													88	250					0	0	1	0	0
CDH13	1012	broad.mit.edu	37	16	83065742	83065742	+	Silent	SNP	C	C	T			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr16:83065742C>T	uc010vns.2	+	3	690	c.426C>T	c.(424-426)ttC>ttT	p.F142F	CDH13_uc021tlw.1_Silent_p.F95F|CDH13_uc010chh.3_Silent_p.F95F|CDH13_uc002fgx.3_Silent_p.F95F|CDH13_uc010vnt.2_Intron|CDH13_uc010vnu.2_Silent_p.F95F	NM_001220488	NP_001207417	P55290	CAD13_HUMAN	Homo sapiens cadherin 13, H-cadherin (heart) (CDH13), transcript variant 2, mRNA.	95	Cadherin 1.				Rac protein signal transduction|Rho protein signal transduction|adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding	p.F95F(2)		large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		AAACTCTGTTCGTCCATGCAC	0.522000													7	33					0	0	1	0	0
RASGRF2	5924	broad.mit.edu	37	5	80513248	80513248	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr5:80513248A>C	uc003kha.2	+	24	3558	c.3508A>C	c.(3508-3510)Aac>Cac	p.N1170H	RNU5E-1_uc011cto.1_Intron|RASGRF2_uc011ctn.2_Non-coding_Transcript	NM_006909	NP_008840	O14827	RGRF2_HUMAN	Homo sapiens Ras protein-specific guanine nucleotide-releasing factor 2 (RASGRF2), mRNA.	1170	Ras-GEF.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	Rho guanyl-nucleotide exchange factor activity|protein binding	p.N1170H(2)		biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		AGGAACACCAAACTTTACTGA	0.403000													13	217					0	0	1	0	0
ZNF629	23361	broad.mit.edu	37	16	30794780	30794780	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr16:30794780T>C	uc002dzs.1	-	2	1077	c.869A>G	c.(868-870)tAc>tGc	p.Y290C		NM_001080417	NP_001073886	Q9UEG4	ZN629_HUMAN	Homo sapiens zinc finger protein 629 (ZNF629), mRNA.	290					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Y290C(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22			Colorectal(24;0.198)			GGGGCACTTGTAGGGTTTCTC	0.647000													3	70					0	0	1	0	0
FBN2	2201	broad.mit.edu	37	5	127855010	127855010	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr5:127855010C>T	uc003kuu.3	-	4	1023	c.584G>A	c.(583-585)cGc>cAc	p.R195H	FBN2_uc003kuv.2_Missense_Mutation_p.R162H|FBN2_uc003kuw.4_Missense_Mutation_p.R195H	NM_001999	NP_001990	P35556	FBN2_HUMAN	Homo sapiens fibrillin 2 (FBN2), mRNA.	195	EGF-like 3.			GPNR -> AQP (in Ref. 1; AAA18950).	bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	p.R195H(3)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		ACAAGCACAGCGGTTGGGTCC	0.408000													5	82					0	0	1	0	0
ZNF492	57615	broad.mit.edu	37	19	22836775	22836775	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr19:22836775C>T	uc002nqw.3	+	2	332	c.88C>T	c.(88-90)Cct>Tct	p.P30S		NM_020855	NP_065906	Q9P255	ZN492_HUMAN	Homo sapiens zinc finger protein 492 (ZNF492), mRNA.	30	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P30S(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				AGGAAAAGAACCTTGGAATGT	0.423000													42	102					0	0	1	0	0
NUMB	8650	broad.mit.edu	37	14	73743464	73743464	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr14:73743464T>G	uc001xny.1	-	12	2098	c.1778A>C	c.(1777-1779)gAt>gCt	p.D593A	NUMB_uc010aro.1_Missense_Mutation_p.D398A|NUMB_uc010arp.1_Missense_Mutation_p.D387A|NUMB_uc010arq.1_Missense_Mutation_p.D447A|NUMB_uc010arr.1_Missense_Mutation_p.D436A|NUMB_uc001xoa.1_Missense_Mutation_p.D545A|NUMB_uc001xnz.1_Missense_Mutation_p.D582A|NUMB_uc001xob.1_Missense_Mutation_p.D534A|NUMB_uc001xod.1_Missense_Mutation_p.D545A|NUMB_uc001xoc.1_Missense_Mutation_p.D593A|NUMB_uc010ars.1_Missense_Mutation_p.D582A|NUMB_uc010ttz.1_Missense_Mutation_p.D291A|NUMB_uc001xoe.3_Non-coding_Transcript	NM_001005743	NP_001005743	P49757	NUMB_HUMAN	Homo sapiens numb homolog (Drosophila) (NUMB), transcript variant 1, mRNA.	593					axon guidance|lateral ventricle development|neuroblast division in subventricular zone|positive regulation of neurogenesis	integral to plasma membrane		p.D593A(2)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00471)|OV - Ovarian serous cystadenocarcinoma(108;0.161)		CCTGCCATCATCTACACCATT	0.527000													17	36					0	0	1	0	0
GOLGB1	2804	broad.mit.edu	37	3	121413151	121413151	+	Silent	SNP	T	T	C			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr3:121413151T>C	uc010hrc.3	-	12	6345	c.6219A>G	c.(6217-6219)gaA>gaG	p.E2073E	GOLGB1_uc003eei.4_Silent_p.E2068E|GOLGB1_uc003eej.4_Silent_p.E2034E|GOLGB1_uc021xcy.1_Silent_p.E1993E|GOLGB1_uc011bjm.1_Silent_p.E1954E|GOLGB1_uc010hrd.1_Silent_p.E2032E	NM_004487	NP_004478	Q14789	GOGB1_HUMAN	Homo sapiens golgin B1 (GOLGB1), mRNA.	2068					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding	p.E2068E(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TTTTGCGGTGTTCAACTGCTT	0.403000													4	317					0	0	1	0	0
OTOGL	283310	broad.mit.edu	37	12	80750271	80750271	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr12:80750271C>G	uc001szd.3	+	46	5861	c.5855C>G	c.(5854-5856)cCt>cGt	p.P1952R	OTOGL_uc021rba.1_5'UTR|OTOGL_uc009zsg.2_5'UTR	NM_173591	NP_775862			Homo sapiens otogelin-like (OTOGL), mRNA.									p.P395A(2)|p.P1952R(1)|p.P317R(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						GGCCACAGTCCTCTTTCTTGC	0.328000													22	99					0	0	1	0	0
TMEM51	55092	broad.mit.edu	37	1	15546032	15546032	+	Silent	SNP	C	C	T			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr1:15546032C>T	uc001avw.4	+	3	1074	c.555C>T	c.(553-555)aaC>aaT	p.N185N	TMEM51_uc010obk.2_Silent_p.N185N|TMEM51_uc001avz.3_3'UTR|TMEM51_uc001avy.3_Silent_p.N185N|TMEM51_uc001avx.3_Silent_p.N185N	NM_001136216	NP_060492	Q9NW97	TMM51_HUMAN	Homo sapiens transmembrane protein 51 (TMEM51), transcript variant 1, mRNA.	185						integral to membrane		p.N185N(2)|p.G184R(1)		breast(1)|central_nervous_system(1)|cervix(3)|large_intestine(2)|lung(5)|prostate(2)	14		Renal(390;0.00145)|Breast(348;0.00186)|Colorectal(325;0.00215)|all_lung(284;0.00459)|Lung NSC(340;0.0104)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;2.07e-06)|COAD - Colon adenocarcinoma(227;7.14e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000175)|KIRC - Kidney renal clear cell carcinoma(229;0.00141)|STAD - Stomach adenocarcinoma(313;0.00644)|READ - Rectum adenocarcinoma(331;0.0751)		GCCCTGGGAACCCCCCTGACA	0.547000													23	76					0	0	1	0	0
OR7A5	26659	broad.mit.edu	37	19	14938449	14938449	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr19:14938449G>T	uc002mzw.3	-	0	828	c.605C>A	c.(604-606)aCa>aAa	p.T202K	OR7A5_uc010xoa.2_Missense_Mutation_p.T202K	NM_017506	NP_059976	Q15622	OR7A5_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily A, member 5 (OR7A5), mRNA.	202					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T202K(2)		breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						CAGCGCAACTGTAAAATATAT	0.428000													5	95					0	0	1	0	0
LRRC17	10234	broad.mit.edu	37	7	102574825	102574825	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr7:102574825G>C	uc003vau.3	+	1	854	c.465G>C	c.(463-465)ttG>ttC	p.L155F	FBXL13_uc010liq.1_Intron|FBXL13_uc003vaq.2_Intron|FBXL13_uc010lir.1_Intron|FBXL13_uc003var.2_Intron|FBXL13_uc003vas.2_Intron|LRRC17_uc003vat.3_Missense_Mutation_p.L155F	NM_001031692	NP_001026862	Q8N6Y2	LRC17_HUMAN	Homo sapiens leucine rich repeat containing 17 (LRRC17), transcript variant 1, mRNA.	155					bone marrow development|negative regulation of osteoclast differentiation|ossification	extracellular space		p.L155F(2)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	17						CACCTCTCTTGAGCTACCTGC	0.458000													41	120					0	0	1	0	0
C10orf76	79591	broad.mit.edu	37	10	103789494	103789494	+	Silent	SNP	G	G	A			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr10:103789494G>A	uc009xwy.1	-	4	417	c.315C>T	c.(313-315)tgC>tgT	p.C105C	C10orf76_uc001kui.3_Silent_p.C105C	NM_024541	NP_078817	Q5T2E6	CJ076_HUMAN	Homo sapiens chromosome 10 open reading frame 76 (C10orf76), mRNA.	105						integral to membrane		p.C105C(3)		autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|upper_aerodigestive_tract(2)	24		Colorectal(252;0.123)		Epithelial(162;2.41e-08)|all cancers(201;6.41e-07)		GAATGAGTGCGCACAGGGTCT	0.483000													4	141					0	0	1	0	0
EML5	161436	broad.mit.edu	37	14	89168815	89168815	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr14:89168815A>G	uc021ryf.1	-	13	2462	c.2213T>C	c.(2212-2214)tTg>tCg	p.L738S	EML5_uc021ryg.1_Missense_Mutation_p.L738S|EML5_uc001xxh.1_5'UTR	NM_183387	NP_899243	Q05BV3	EMAL5_HUMAN	Homo sapiens echinoderm microtubule associated protein like 5 (EML5), mRNA.	738						cytoplasm|microtubule		p.L738S(3)|p.L738F(1)		breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						GTAGTCTTTCAAAGGATGAAT	0.388000													8	58					0	0	1	0	0
PCDH19	57526	broad.mit.edu	37	X	99551705	99551705	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chrX:99551705T>C	uc010nmz.3	-	5	4693	c.3017A>G	c.(3016-3018)gAc>gGc	p.D1006G	PCDH19_uc004efw.4_Missense_Mutation_p.D958G|PCDH19_uc004efx.4_Missense_Mutation_p.D959G	NM_001184880	NP_001171809	Q8TAB3	PCD19_HUMAN	Homo sapiens protocadherin 19 (PCDH19), transcript variant 3, mRNA.	1006					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.D1006G(2)|p.D459G(1)		breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						GCCGCAGTCGTCATAAGCCTC	0.577000													3	52					0	0	1	0	0
NOTCH2NL	388677	broad.mit.edu	37	1	145273385	145273385	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr1:145273385G>A	uc001emn.4	+	2	609	c.239G>A	c.(238-240)gGc>gAc	p.G80D	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|NOTCH2NL_uc001emm.4_Missense_Mutation_p.G80D|NOTCH2NL_uc001emo.2_Missense_Mutation_p.G80D|NBPF10_uc010oyh.1_Non-coding_Transcript|NBPF10_uc021ouk.1_5'UTR	NM_203458	NP_982283	Q7Z3S9	NT2NL_HUMAN	Homo sapiens notch 2 N-terminal like (NOTCH2NL), mRNA.	80	EGF-like 3.				Notch signaling pathway|cell differentiation|multicellular organismal development	cytoplasm|extracellular region	calcium ion binding	p.G80D(3)|p.G80G(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	27						CTGAATGGCGGCACATGCCAT	0.532000													7	493					0	0	1	0	0
SEC14L1	6397	broad.mit.edu	37	17	75205504	75205504	+	Silent	SNP	C	C	G			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr17:75205504C>G	uc010dhc.3	+	13	1877	c.1557C>G	c.(1555-1557)ctC>ctG	p.L519L	SEC14L1_uc021udw.1_Silent_p.L519L|SEC14L1_uc021udx.1_Silent_p.L519L|SEC14L1_uc002jto.3_Silent_p.L519L|SEC14L1_uc010wth.2_Silent_p.L519L|SEC14L1_uc002jtm.3_Silent_p.L519L|SEC14L1_uc010wti.2_Silent_p.L485L|SEC14L1_uc010wtj.1_Silent_p.L79L|SEC14L1_uc002jtr.2_5'UTR	NM_001039573	NP_001191337	Q92503	S14L1_HUMAN	Homo sapiens SEC14-like 1 (S. cerevisiae) (SEC14L1), transcript variant 2, mRNA.	519					transport	Golgi apparatus|integral to membrane	binding	p.L519L(2)		NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						ACCTGAAGCTCTGGACTGAGA	0.587000													9	30					0	0	1	0	0
USP28	57646	broad.mit.edu	37	11	113704218	113704218	+	Nonsense_Mutation	SNP	G	G	C			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr11:113704218G>C	uc001poh.3	-	6	716	c.683C>G	c.(682-684)tCa>tGa	p.S228*	USP28_uc010rwy.2_Nonsense_Mutation_p.S103*|USP28_uc001poi.3_5'UTR|USP28_uc001poj.3_Nonsense_Mutation_p.S228*|USP28_uc010rwz.1_Nonsense_Mutation_p.S228*	NM_020886	NP_065937	Q96RU2	UBP28_HUMAN	Homo sapiens ubiquitin specific peptidase 28 (USP28), mRNA.	228					DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|cell proliferation|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.S228*(3)		breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		TTTTCTATTTGATCCCATCAT	0.383000													5	123					0	0	1	0	0
TAL2	6887	broad.mit.edu	37	9	108425025	108425025	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr9:108425025A>C	uc004bct.3	+	0	288	c.248A>C	c.(247-249)cAc>cCc	p.H83P		NM_005421	NP_005412	Q16559	TAL2_HUMAN	Homo sapiens T-cell acute lymphocytic leukemia 2 (TAL2), mRNA.	83					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.H83P(2)									CAAGGACCCCACCTGCCAGGC	0.552000			T	TRB@	T-ALL								8	51					0	0	1	0	0
CEP170	9859	broad.mit.edu	37	1	243327906	243327906	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr1:243327906G>T	uc021plo.1	-	12	3764	c.3356C>A	c.(3355-3357)gCt>gAt	p.A1119D	CEP170_uc021plp.1_Missense_Mutation_p.A1021D|CEP170_uc021plq.1_Missense_Mutation_p.A1021D|CEP170_uc001hzv.1_Missense_Mutation_p.A497D	NM_014812	NP_055627	Q5SW79	CE170_HUMAN	Homo sapiens centrosomal protein 170kDa (CEP170), transcript variant alpha, mRNA.	1119	Targeting to centrosomes.|Targeting to microtubules.					centriole|microtubule|spindle		p.A1119D(2)		NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			TGCTTTGTCAGCATCAGCAAG	0.478000													15	47					0	0	1	0	0
DNMT3A	1788	broad.mit.edu	37	2	25469138	25469138	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr2:25469138C>T	uc002rgc.3	-	10	1577	c.1320G>A	c.(1318-1320)tgG>tgA	p.W440*	DNMT3A_uc002rgd.3_Nonsense_Mutation_p.W440*|DNMT3A_uc010eyi.3_Non-coding_Transcript|DNMT3A_uc002rgb.3_Nonsense_Mutation_p.W251*	NM_022552	NP_783328	Q9Y6K1	DNM3A_HUMAN	Homo sapiens DNA (cytosine-5-)-methyltransferase 3 alpha (DNMT3A), transcript variant 3, mRNA.	440					regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding	p.W440*(2)|p.W251*(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGGTTCCACCCACATGTCCG	0.547000			"""Mis, F, N, S"""		AML								61	146					0	0	1	0	0
HRNR	388697	broad.mit.edu	37	1	152191256	152191256	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr1:152191256C>T	uc001ezt.1	-	2	2925	c.2849G>A	c.(2848-2850)gGc>gAc	p.G950D		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	950					keratinization		calcium ion binding|protein binding	p.G950D(2)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTGACCTGAGCCAGATCCATG	0.547000													265	245					0	0	1	0	0
ANKRD24	170961	broad.mit.edu	37	19	4207577	4207577	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr19:4207577C>T	uc010dtt.1	+	8	893	c.617C>T	c.(616-618)gCc>gTc	p.A206V	ANKRD24_uc002lzs.2_Missense_Mutation_p.A177V|ANKRD24_uc002lzt.2_Missense_Mutation_p.A178V	NM_133475	NP_597732	Q8TF21	ANR24_HUMAN	Homo sapiens ankyrin repeat domain 24 (ANKRD24), mRNA.	206								p.A98V(1)|p.A296V(1)|p.A206V(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)		CAAGGGGCTGCCGCGAACGAT	0.577000											OREG0025162	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	81					0	0	1	0	0
ATXN3L	92552	broad.mit.edu	37	X	13337265	13337265	+	Silent	SNP	C	C	T			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chrX:13337265C>T	uc010ned.3	-	0	1254	c.789G>A	c.(787-789)tcG>tcA	p.S263S		NM_001135995	NP_001129467	Q9H3M9	ATX3L_HUMAN	Homo sapiens ataxin 3-like (ATXN3L), mRNA.	263					protein deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ubiquitin-specific protease activity	p.S263S(2)		endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						GAAGATCTTGCGATGTGTTTC	0.433000													203	192					0	0	1	0	0
CEACAM6	4680	broad.mit.edu	37	19	42260828	42260828	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr19:42260828C>A	uc002orm.2	+	1	534	c.385C>A	c.(385-387)Ctt>Att	p.L129I		NM_002483	NP_002474	P40199	CEAM6_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen) (CEACAM6), mRNA.	129	Ig-like V-type.				cell-cell signaling|signal transduction	anchored to membrane|integral to plasma membrane		p.L129I(2)		breast(1)|kidney(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797)		AAAGTCAGATCTTGTGAATGA	0.473000													6	480					0	0	1	0	0
AGAP6	414189	broad.mit.edu	37	10	51754173	51754173	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr10:51754173G>T	uc001jix.4	+	3	778	c.380G>T	c.(379-381)aGc>aTc	p.S127I		NM_001077665	NP_001071133	C9IYN2	C9IYN2_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 6 (AGAP6), mRNA.	127					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	p.S127I(4)		NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						ATAAGAAGAAGCAACTGTACA	0.269000													4	99					0	0	1	0	0
S100A7L2	645922	broad.mit.edu	37	1	153410763	153410763	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr1:153410763C>T	uc010pdx.2	-	1	154	c.76G>A	c.(76-78)Gcg>Acg	p.A26T		NM_001045479	NP_001038944			Homo sapiens S100 calcium binding protein A7-like 2 (S100A7L2), mRNA.									p.A15T(1)|p.A26T(1)		NS(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	8	all_lung(78;2.4e-33)|Lung NSC(65;8.13e-32)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			CGAAACATCGCGACTATGTCC	0.433000													16	160					0	0	1	0	0
HOXB13	10481	broad.mit.edu	37	17	46804355	46804355	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr17:46804355T>C	uc002ioa.3	-	1	808	c.652A>G	c.(652-654)Aag>Gag	p.K218E	MIR3185_uc021tzl.1_5'Flank	NM_006361	NP_006352	Q92826	HXB13_HUMAN	Homo sapiens homeobox B13 (HOXB13), mRNA.	218					angiogenesis|epidermis development|response to wounding		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.K218E(2)		endometrium(2)|kidney(2)|lung(6)|prostate(1)	11						ATGCGTTTCTTGCGGCCGCGA	0.622000													20	67					0	0	1	0	0
SCAI	286205	broad.mit.edu	37	9	127790688	127790688	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr9:127790688C>A	uc004bpd.3	-	5	587	c.465G>T	c.(463-465)caG>caT	p.Q155H	SCAI_uc004bpe.3_Missense_Mutation_p.Q132H|SCAI_uc010mwu.3_Non-coding_Transcript	NM_173690	NP_775961	Q8N9R8	SCAI_HUMAN	Homo sapiens suppressor of cancer cell invasion (SCAI), transcript variant 1, mRNA.	132	Necessary to inhibit MKL1-induced SRF transcriptional activity (By similarity).|Required for interaction with MKL1 (By similarity).				negative regulation of Rho protein signal transduction|negative regulation of cell migration|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|integral to membrane|nucleus	protein binding|transcription corepressor activity	p.Q155H(18)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(5)|stomach(1)|urinary_tract(1)	35						GATAGTATAGCTGCCCAATCT	0.338000													9	87					0	0	1	0	0
SUPV3L1	6832	broad.mit.edu	37	10	70940278	70940278	+	Silent	SNP	C	C	T			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr10:70940278C>T	uc001jpe.1	+	0	286	c.231C>T	c.(229-231)gaC>gaT	p.D77D	SUPV3L1_uc010qjd.1_5'UTR	NM_003171	NP_003162	Q8IYB8	SUV3_HUMAN	Homo sapiens suppressor of var1, 3-like 1 (S. cerevisiae) (SUPV3L1), mRNA.	77					DNA duplex unwinding	mitochondrial nucleoid|nucleus	ATP binding|DNA binding|DNA helicase activity|RNA binding	p.D77D(2)		NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CCAGCGCCGACGGCGACGTCG	0.652000													31	78					0	0	1	0	0
UBB	7314	broad.mit.edu	37	17	16285790	16285790	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr17:16285790C>A	uc002gpx.3	+	1	707	c.569C>A	c.(568-570)cCc>cAc	p.P190H	UBB_uc010vwe.1_Missense_Mutation_p.P114H|UBB_uc021tqs.1_Missense_Mutation_p.P190H	NM_018955	NP_061828	P0CG47	UBB_HUMAN	Homo sapiens ubiquitin B (UBB), mRNA.	190	Ubiquitin-like 3.				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|JNK cascade|M/G1 transition of mitotic cell cycle|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|S phase of mitotic cell cycle|T cell receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|innate immune response|mRNA metabolic process|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	p.P190H(2)|p.P189P(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)		GGCATCCCCCCCGACCAGCAG	0.552000													3	80					0	0	1	0	0
PRKCB	5579	broad.mit.edu	37	16	23999908	23999908	+	Silent	SNP	C	C	T			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr16:23999908C>T	uc002dmd.3	+	2	482	c.285C>T	c.(283-285)tcC>tcT	p.S95S	PRKCB_uc002dme.3_Silent_p.S95S	NM_212535	NP_997700	P05771	KPCB_HUMAN	Homo sapiens protein kinase C, beta (PRKCB), transcript variant 1, mRNA.	95					B cell activation|B cell receptor signaling pathway|apoptosis|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	ATP binding|androgen receptor binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding	p.S95S(3)		central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	GTCCAGCCTCCGATGTAAGTA	0.483000													4	89					0	0	1	0	0
ISCU	23479	broad.mit.edu	37	12	108958127	108958127	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr12:108958127C>A	uc010sxc.2	+	1	292	c.187C>A	c.(187-189)Ctg>Atg	p.L63M	SART3_uc001tmz.1_5'Flank|SART3_uc009zux.1_5'Flank|SART3_uc010swx.1_5'Flank|SART3_uc010swz.1_5'Flank|SART3_uc001tna.1_5'Flank|SART3_uc001tnb.3_5'Flank|ISCU_uc010sxa.1_Missense_Mutation_p.L63M|ISCU_uc010sxb.1_Missense_Mutation_p.L63M|ISCU_uc001tnc.4_Missense_Mutation_p.L38M|ISCU_uc009zuy.3_Missense_Mutation_p.L38M|ISCU_uc010sxd.2_Missense_Mutation_p.L63M	NM_213595	NP_998760	Q9H1K1	ISCU_HUMAN	Homo sapiens iron-sulfur cluster scaffold homolog (E. coli) (ISCU), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	63					iron-sulfur cluster assembly|nitrogen fixation	cytosol|mitochondrion|nucleus	iron ion binding|iron-sulfur cluster binding|protein complex scaffold	p.L38M(1)		kidney(2)|large_intestine(2)|lung(4)|prostate(2)|urinary_tract(1)	11						TGGAACTGGACTGGTGGGGGC	0.373000													22	78					0	0	1	0	0
NCOR1	9611	broad.mit.edu	37	17	15995320	15995320	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr17:15995320G>A	uc002gpo.3	-	21	3142	c.2873C>T	c.(2872-2874)gCt>gTt	p.A958V	NCOR1_uc002gpn.3_Missense_Mutation_p.A974V|NCOR1_uc002gpp.1_Missense_Mutation_p.A865V|NCOR1_uc002gpq.1_5'UTR|NCOR1_uc002gpr.3_Missense_Mutation_p.A865V	NM_006311	NP_006302	O75376	NCOR1_HUMAN	Homo sapiens nuclear receptor corepressor 1 (NCOR1), transcript variant 1, mRNA.	958					cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding	p.A958V(2)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		CTGGTAGAGAGCATAGCCGCT	0.428000													4	166					0	0	1	0	0
ATM	472	broad.mit.edu	37	11	108180931	108180931	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr11:108180931T>C	uc001pkb.1	+	38	6192	c.5807T>C	c.(5806-5808)tTa>tCa	p.L1936S	ATM_uc009yxr.1_Missense_Mutation_p.L1936S|C11orf65_uc010rvx.1_Intron|ATM_uc001pke.2_Missense_Mutation_p.L588S|ATM_uc001pkg.1_Missense_Mutation_p.L293S|ATM_uc009yxt.1_Missense_Mutation_p.L50S	NM_000051	NP_000042	Q13315	ATM_HUMAN	Homo sapiens ataxia telangiectasia mutated (ATM), mRNA.	1936					DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2/M transition DNA damage checkpoint|cell cycle arrest|cellular response to gamma radiation|double-strand break repair via homologous recombination|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein N-terminus binding|protein complex binding|protein dimerization activity	p.L1936S(3)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		TGGCTGGATTTAAATTATCTA	0.318000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			37	91					0	0	1	0	0
BCL6	604	broad.mit.edu	37	3	187451335	187451335	+	Silent	SNP	G	G	A			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr3:187451335G>A	uc003frp.3	-	2	604	c.147C>T	c.(145-147)gtC>gtT	p.V49V	BCL6_uc011bsf.1_Silent_p.V49V|BCL6_uc010hza.2_5'UTR|BCL6_uc003frq.2_Silent_p.V49V	NM_001130845	NP_001697	P41182	BCL6_HUMAN	Homo sapiens B-cell CLL/lymphoma 6 (BCL6), transcript variant 2, mRNA.	49	BTB.				negative regulation of B cell apoptosis|negative regulation of S phase of mitotic cell cycle|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.V49V(2)		central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		AGGCCATGAGGACCGTTTTAT	0.507000			"""T, Mis"""	"""IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"""	"""NHL, CLL"""								11	190					0	0	1	0	0
ADAMTS13	11093	broad.mit.edu	37	9	136324223	136324223	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr9:136324223G>A	uc004cdv.4	+	28	4649	c.4205G>A	c.(4204-4206)cGg>cAg	p.R1402Q	ADAMTS13_uc004cdp.4_3'UTR|ADAMTS13_uc004cdt.1_Missense_Mutation_p.R1346Q|ADAMTS13_uc004cdu.1_Missense_Mutation_p.R1315Q|ADAMTS13_uc004cdw.4_Missense_Mutation_p.R1346Q|ADAMTS13_uc004cdx.4_Missense_Mutation_p.R1315Q|ADAMTS13_uc004cdz.4_Missense_Mutation_p.R1072Q|ADAMTS13_uc004ceb.4_Missense_Mutation_p.R198Q|CACFD1_uc011mdg.1_5'Flank|CACFD1_uc011mdi.1_5'Flank|CACFD1_uc004cec.2_5'Flank|CACFD1_uc010nan.2_5'Flank|CACFD1_uc011mdh.1_5'Flank	NM_139025	NP_620594	Q76LX8	ATS13_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 13 (ADAMTS13), transcript variant 1, mRNA.	1402	CUB 2.				cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis	cell surface|proteinaceous extracellular matrix	calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding	p.R1402Q(3)		central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		GCCAGCCTGCGGGGCCAGTAC	0.587000													7	26					0	0	1	0	0
GRID2	2895	broad.mit.edu	37	4	94376877	94376877	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr4:94376877C>T	uc011cdt.2	+	10	1868	c.1610C>T	c.(1609-1611)aCg>aTg	p.T537M	GRID2_uc011cdu.2_Missense_Mutation_p.T442M	NM_001510	NP_001501	O43424	GRID2_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 2 (GRID2), mRNA.	537					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	p.T537M(4)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	GTGGACTTTACGACACGTTAC	0.433000													46	114					0	0	1	0	0
MAP4K1	11184	broad.mit.edu	37	19	39088138	39088138	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr19:39088138C>T	uc002oix.1	-	22	1874	c.1766G>A	c.(1765-1767)cGc>cAc	p.R589H	MAP4K1_uc002oiy.1_Missense_Mutation_p.R589H|MAP4K1_uc010xug.2_Missense_Mutation_p.A231T	NM_007181	NP_009112	Q92918	M4K1_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase kinase 1 (MAP4K1), transcript variant 2, mRNA.	589	CNH.				activation of JUN kinase activity|peptidyl-serine phosphorylation		ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity	p.R589H(3)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TGCCAGTAGGCGGTGGGGGCT	0.572000													4	142					0	0	1	0	0
TMEM220	388335	broad.mit.edu	37	17	10628403	10628403	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr17:10628403G>A	uc002gmx.3	-	3	690	c.212C>T	c.(211-213)aCg>aTg	p.T71M	TMEM220_uc002gmy.3_Missense_Mutation_p.T61M	NM_001004313	NP_001004313	Q6QAJ8	TM220_HUMAN	Homo sapiens transmembrane protein 220 (TMEM220), mRNA.	71						integral to membrane		p.T71M(2)		kidney(1)|large_intestine(1)|lung(1)|prostate(2)	5						AGCCCACACCGTACAAAAGAG	0.448000													4	137					0	0	1	0	0
WDFY3	23001	broad.mit.edu	37	4	85603587	85603587	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr4:85603587G>A	uc003hpd.3	-	63	10171	c.9763C>T	c.(9763-9765)Cca>Tca	p.P3255S	WDFY3_uc003hpc.3_Missense_Mutation_p.P10S	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	Homo sapiens WD repeat and FYVE domain containing 3 (WDFY3), mRNA.	3255						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	p.P3255S(2)		breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TCAGGAGCTGGTGTTTCAGGA	0.318000													21	75					0	0	1	0	0
C2orf54	79919	broad.mit.edu	37	2	241831176	241831176	+	Silent	SNP	C	C	T			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr2:241831176C>T	uc002wae.4	-	1	678	c.519G>A	c.(517-519)tcG>tcA	p.S173S	C2orf54_uc002wac.3_Silent_p.S5S|C2orf54_uc002wad.3_Silent_p.S24S	NM_001085437	NP_001078906	Q08AI8	CB054_HUMAN	Homo sapiens chromosome 2 open reading frame 54 (C2orf54), transcript variant 1, mRNA.	173				S -> P (in Ref. 1; BAB15445).				p.S173S(2)		haematopoietic_and_lymphoid_tissue(1)|lung(4)|prostate(1)	6		all_epithelial(40;3.99e-16)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)		CCGCGTTCAGCGAACCTGCAA	0.647000													20	55					0	0	1	0	0
GPATCH4	54865	broad.mit.edu	37	1	156565503	156565504	+	Frame_Shift_Ins	INS	-	T	T			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr1:156565503_156565504insT	uc001fpm.3	-	7	677_678	c.629_630insA	c.(628-630)aagfs	p.K210fs	APOA1BP_uc010php.1_Intron|GPATCH4_uc001fpl.3_Frame_Shift_Ins_p.K205fs	NM_015590	NP_056405	Q5T3I0	GPTC4_HUMAN	Homo sapiens G patch domain containing 4 (GPATCH4), transcript variant 1, mRNA.	205						intracellular	nucleic acid binding			autonomic_ganglia(1)|breast(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(3)|stomach(1)	17	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TTTTCTTTTTCTTTTTTTTGGG	0.535													7	313	---	---	---	---					
SCAMP1	9522	broad.mit.edu	37	5	77755186	77755186	+	Splice_Site	DEL	G	-	-			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr5:77755186delG	uc003kfl.3	+	9	1006	c.849_splice	c.e9+1	p.K283_splice	SCAMP1_uc010jaa.3_Splice_Site|SCAMP1_uc011ctc.2_Splice_Site|SCAMP1_uc011ctd.2_Splice_Site|SCAMP1_uc003kfm.3_Splice_Site|SCAMP1_uc003kfn.3_Splice_Site_p.K22_splice	NM_004866	NP_004857	O15126	SCAM1_HUMAN	Homo sapiens secretory carrier membrane protein 1 (SCAMP1), mRNA.	284					post-Golgi vesicle-mediated transport|protein transport	integral to membrane|recycling endosome membrane|trans-Golgi network	protein binding						all_lung(232;0.000397)|Lung NSC(167;0.00105)|Ovarian(174;0.0105)|Prostate(461;0.214)		OV - Ovarian serous cystadenocarcinoma(54;1.9e-46)|Epithelial(54;9.4e-43)|all cancers(79;1.12e-37)		GTTCAAAAAAGTAAGTGAAAT	0.323													8	18	---	---	---	---					
CDKN1B	1027	broad.mit.edu	37	12	12870993	12870994	+	Frame_Shift_Ins	INS	-	A	A			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr12:12870993_12870994insA	uc001rat.2	+	0	692_693	c.220_221insA	c.(220-222)tacfs	p.Y74fs		NM_004064	NP_004055	P46527	CDN1B_HUMAN	Homo sapiens cyclin-dependent kinase inhibitor 1B (p27, Kip1) (CDKN1B), mRNA.	74					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|S phase of mitotic cell cycle|autophagic cell death|cell cycle arrest|cellular response to lithium ion|induction of apoptosis|negative regulation of cell growth|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein catabolic process	cytosol|endosome|nucleoplasm	cyclin-dependent protein kinase inhibitor activity|protein phosphatase binding|transforming growth factor beta receptor, cytoplasmic mediator activity	p.Y74*(1)		breast(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(5)	13		Prostate(47;0.0322)|all_epithelial(100;0.159)		BRCA - Breast invasive adenocarcinoma(232;0.0336)		AGAGGGCAAGTACGAGTGGCAA	0.589													49	50	---	---	---	---					
